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            "description": "The REPET package integrates bioinformatics pipelines dedicated to detect, annotate and analyze transposable elements (TEs) in genomic sequences. The main pipelines are (i) TEdenovo, which search for interspersed repeats, build consensus sequences and classify them according to TE features, and (ii)\n TEannot, which mines a genome with a library of TE sequences, for instance the one produced by the TEdenovo pipeline, to provide TE annotations exported into GFF3 files.",
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                    "url": "https://urgi.versailles.inrae.fr/Tools/REPET",
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                    "note": "see also https://urgi.versailles.inrae.fr/Tools/REPET/README"
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                    "url": "https://urgi.versailles.inrae.fr/Tools/REPET/INSTALL",
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                    "note": null
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                    "url": "https://urgi.versailles.inrae.fr/Tools/REPET/TEdenovo-tuto",
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                        "title": "Detection of New Transposable Element Families in Drosophila melanogaster and Anopheles gambiae Genomes",
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                        "date": "2003-12-29T00:00:00Z",
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                        "journal": "Journal of Molecular Evolution"
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                        "title": "De Novo Annotation of Transposable Elements: Tackling the Fat Genome Issue",
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                        "abstract": "Long non-coding RNAs (lncRNAs) play crucial roles in the regulation of gene expression and maintenance of genomic integrity through various interactions with DNA, RNA, and proteins. The availability of large-scale sequence data from various high-throughput platforms has opened possibilities to identify, predict, and functionally annotate lncRNAs. As a result, there is a growing demand for an integrative computational framework capable of identifying known lncRNAs, predicting novel lncRNAs, and inferring the downstream regulatory interactions of lncRNAs at the genome-scale. We present ETENLNC (End-To-End-Novel-Long-NonCoding), a user-friendly, integrative, open-source, scalable, and modular computational framework for identifying and analyzing lncRNAs from raw RNA-Seq data. ETENLNC employs six stringent filtration steps to identify novel lncRNAs, performs differential expression analysis of mRNA and lncRNA transcripts, and predicts regulatory interactions between lncRNAs, mRNAs, miRNAs, and proteins. We benchmarked ETENLNC against six existing tools and optimized it for desktop workstations and high-performance computing environments using data from three different species. ETENLNC is freely available on GitHub: https://github.com/EvolOMICS-TU/ETENLNC.",
                        "date": "2024-10-01T00:00:00Z",
                        "citationCount": 2,
                        "authors": [
                            {
                                "name": "Nath P."
                            },
                            {
                                "name": "Bhuyan K."
                            },
                            {
                                "name": "Bhattacharyya D.K."
                            },
                            {
                                "name": "Barah P."
                            }
                        ],
                        "journal": "Computational Biology and Chemistry"
                    }
                }
            ],
            "credit": [
                {
                    "name": "Pankaj Barah",
                    "email": "barah@tezu.ernet.in",
                    "url": "https://www.tezu.ernet.in/dmbbt/profile/34",
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                    "note": "Assistant Professor at Department of Molecular Biology and Biotechnology, Tezpur University."
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        {
            "name": "MirGeneDB",
            "description": "MirGeneDB is a database of manually curated microRNA genes that have been validated and annotated as initially described in Fromm et al. 2015 , Fromm et al. 2020 and Fromm et al 2022. MirGeneDB 3.0 (Clarke and Hoye et al. 2024 ) includes more than 21,000 microRNA gene entries representing more than 1,700 microRNA families from 114 metazoan species. All microRNAs can be browsed, searched and downloaded.",
            "homepage": "http://mirgenedb.org/",
            "biotoolsID": "mirgen",
            "biotoolsCURIE": "biotools:mirgen",
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            ],
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                {
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                            "uri": "http://edamontology.org/operation_2422",
                            "term": "Data retrieval"
                        },
                        {
                            "uri": "http://edamontology.org/operation_0564",
                            "term": "Sequence visualisation"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1097",
                                "term": "Sequence accession (nucleic acid)"
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                                    "term": "HTML"
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                    "note": "Data retrieval: curated miRNA. Organism identifier: a specific miRNA identifier or a species  for all miRNAs for that species. Gene transcript report: with metadata and visualization. RNA secondary structure: the hairpin loop of the miRNA with bases.",
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                {
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                        {
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                        {
                            "data": {
                                "uri": "http://edamontology.org/data_3495",
                                "term": "RNA sequence"
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                                    "term": "FASTA"
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                        {
                            "data": {
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                                "term": "Sequence coordinates"
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                                    "uri": "http://edamontology.org/format_2305",
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                    "term": "Functional, regulatory and non-coding RNA"
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                    "term": "Gene regulation"
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                    "term": "Evolutionary biology"
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                    "term": "Zoology"
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                    "term": "Human biology"
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            ],
            "download": [
                {
                    "url": "https://www.mirgenedb.org/download",
                    "type": "Biological data",
                    "note": "Sequence downloads for 75 species",
                    "version": "3.0"
                }
            ],
            "documentation": [
                {
                    "url": "https://www.mirgenedb.org/information",
                    "type": [
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            ],
            "publication": [
                {
                    "doi": "10.1093/nar/gkab1101",
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                    "pmcid": "PMC8728216",
                    "type": [
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                    ],
                    "version": "2.1",
                    "note": null,
                    "metadata": {
                        "title": "MirGeneDB 2.1: Toward a complete sampling of all major animal phyla",
                        "abstract": "We describe an update of MirGeneDB, the manually curated microRNA gene database. Adhering to uniform and consistent criteria for microRNA annotation and nomenclature, we substantially expanded MirGeneDB with 30 additional species representing previously missing metazoan phyla such as sponges, jellyfish, rotifers and flatworms. MirGeneDB 2.1 now consists of 75 species spanning over ∼800 million years of animal evolution, and contains a total number of 16 670 microRNAs from 1549 families. Over 6000 microRNAs were added in this update using ∼550 datasets with ∼7.5 billion sequencing reads. By adding new phylogenetically important species, especially those relevant for the study of whole genome duplication events, and through updating evolutionary nodes of origin for many families and genes, we were able to substantially refine our nomenclature system. All changes are traceable in the specifically developed MirGeneDB version tracker. The performance of read-pages is improved and microRNA expression matrices for all tissues and species are now also downloadable. Altogether, this update represents a significant step toward a complete sampling of all major metazoan phyla, and a widely needed foundation for comparative microRNA genomics and transcriptomics studies. MirGeneDB 2.1 is part of RNAcentral and Elixir Norway, publicly and freely available at http://www.mirgenedb.org/.",
                        "date": "2022-01-07T00:00:00Z",
                        "citationCount": 95,
                        "authors": [
                            {
                                "name": "Fromm B."
                            },
                            {
                                "name": "Hoye E."
                            },
                            {
                                "name": "Domanska D."
                            },
                            {
                                "name": "Zhong X."
                            },
                            {
                                "name": "Aparicio-Puerta E."
                            },
                            {
                                "name": "Ovchinnikov V."
                            },
                            {
                                "name": "Umu S.U."
                            },
                            {
                                "name": "Chabot P.J."
                            },
                            {
                                "name": "Kang W."
                            },
                            {
                                "name": "Aslanzadeh M."
                            },
                            {
                                "name": "Tarbier M."
                            },
                            {
                                "name": "Marmol-Sanchez E."
                            },
                            {
                                "name": "Urgese G."
                            },
                            {
                                "name": "Johansen M."
                            },
                            {
                                "name": "Hovig E."
                            },
                            {
                                "name": "Hackenberg M."
                            },
                            {
                                "name": "Friedlander M.R."
                            },
                            {
                                "name": "Peterson K.J."
                            }
                        ],
                        "journal": "Nucleic Acids Research"
                    }
                },
                {
                    "doi": "10.1093/nar/gkz885",
                    "pmid": "31598695",
                    "pmcid": "PMC6943042",
                    "type": [
                        "Primary"
                    ],
                    "version": "2.0",
                    "note": null,
                    "metadata": {
                        "title": "MirGeneDB 2.0: The metazoan microRNA complement",
                        "abstract": "Small non-coding RNAs have gained substantial attention due to their roles in animal development and human disorders. Among them, microRNAs are special because individual gene sequences are conserved across the animal kingdom. In addition, unique and mechanistically well understood features can clearly distinguish bona fide miRNAs from the myriad other small RNAs generated by cells. However, making this distinction is not a common practice and, thus, not surprisingly, the heterogeneous quality of available miRNA complements has become a major concern in microRNA research. We addressed this by extensively expanding our curated microRNA gene database-MirGeneDB-to 45 organisms, encompassing a wide phylogenetic swath of animal evolution. By consistently annotating and naming 10,899 microRNA genes in these organisms, we show that previous microRNA annotations contained not only many false positives, but surprisingly lacked >2000 bona fide microRNAs. Indeed, curated microRNA complements of closely related organisms are very similar and can be used to reconstruct ancestral miRNA repertoires. MirGeneDB represents a robust platform for microRNA-based research, providing deeper and more significant insights into the biology and evolution of miRNAs as well as biomedical and biomarker research. MirGeneDB is publicly and freely available at http://mirgenedb.org/.",
                        "date": "2020-01-01T00:00:00Z",
                        "citationCount": 178,
                        "authors": [
                            {
                                "name": "Fromm B."
                            },
                            {
                                "name": "Domanska D."
                            },
                            {
                                "name": "Hoye E."
                            },
                            {
                                "name": "Ovchinnikov V."
                            },
                            {
                                "name": "Kang W."
                            },
                            {
                                "name": "Aparicio-Puerta E."
                            },
                            {
                                "name": "Johansen M."
                            },
                            {
                                "name": "Flatmark K."
                            },
                            {
                                "name": "Mathelier A."
                            },
                            {
                                "name": "Hovig E."
                            },
                            {
                                "name": "Hackenberg M."
                            },
                            {
                                "name": "Friedlander M.R."
                            },
                            {
                                "name": "Peterson K.J."
                            }
                        ],
                        "journal": "Nucleic Acids Research"
                    }
                },
                {
                    "doi": "10.1146/annurev-genet-120213-092023",
                    "pmid": "26473382",
                    "pmcid": "PMC4743252",
                    "type": [
                        "Primary"
                    ],
                    "version": "1.0",
                    "note": null,
                    "metadata": {
                        "title": "A Uniform System for the Annotation of Vertebrate microRNA Genes and the Evolution of the Human microRNAome",
                        "abstract": "Although microRNAs (miRNAs) are among the most intensively studied molecules of the past 20 years, determining what is and what is not a miRNA has not been straightforward. Here, we present a uniform system for the annotation and nomenclature of miRNA genes. We show that less than a third of the 1,881 human miRBase entries, and only approximately 16% of the 7,095 metazoan miRBase entries, are robustly supported as miRNA genes. Furthermore, we show that the human repertoire of miRNAs has been shaped by periods of intense miRNA innovation and that mature gene products show a very different tempo and mode of sequence evolution than star products. We establish a new open access database-MirGeneDB (http://mirgenedb.org)-to catalog this set of miRNAs, which complements the efforts of miRBase but differs from it by annotating the mature versus star products and by imposing an evolutionary hierarchy upon this curated and consistently named repertoire.",
                        "date": "2015-11-23T00:00:00Z",
                        "citationCount": 435,
                        "authors": [
                            {
                                "name": "Fromm B."
                            },
                            {
                                "name": "Billipp T."
                            },
                            {
                                "name": "Peck L.E."
                            },
                            {
                                "name": "Johansen M."
                            },
                            {
                                "name": "Tarver J.E."
                            },
                            {
                                "name": "King B.L."
                            },
                            {
                                "name": "Newcomb J.M."
                            },
                            {
                                "name": "Sempere L.F."
                            },
                            {
                                "name": "Flatmark K."
                            },
                            {
                                "name": "Hovig E."
                            },
                            {
                                "name": "Peterson K.J."
                            }
                        ],
                        "journal": "Annual Review of Genetics"
                    }
                },
                {
                    "doi": "10.1093/nar/gkae1094",
                    "pmid": "39673268",
                    "pmcid": "PMC11701709",
                    "type": [
                        "Primary"
                    ],
                    "version": "3.0",
                    "note": null,
                    "metadata": {
                        "title": "MirGeneDB 3.0: Improved taxonomic sampling, uniform nomenclature of novel conserved microRNA families and updated covariance models",
                        "abstract": "We present a major update of MirGeneDB (3.0), the manually curated animal microRNA gene database. Beyond moving to a new server and the creation of a computational mirror, we have expanded the database with the addition of 33 invertebrate species, including representatives of 5 previously unsampled phyla, and 6 mammal species. MirGeneDB now contains entries for 21 822 microRNA genes (5160 of these from the new species) belonging to 1743 microRNA families. The inclusion of these new species allowed us to refine both the evolutionary node of appearance of a number of microRNA genes/families, as well as MirGeneDB's phylogenetically informed nomenclature system. Updated covariance models of all microRNA families, along with all smallRNA read data are now downloadable. These enhanced annotations will allow researchers to analyze microRNA properties such as secondary structure and features of their biogenesis within a robust phylogenetic context and without the database plagued with numerous false positives and false negatives. In light of these improvements, MirGeneDB 3.0 will assume the responsibility for naming conserved novel metazoan microRNAs. MirGeneDB is part of RNAcentral and Elixir Norway and is publicly and freely available at mirgenedb.org.",
                        "date": "2025-01-06T00:00:00Z",
                        "citationCount": 6,
                        "authors": [
                            {
                                "name": "Clarke A.W."
                            },
                            {
                                "name": "Hoye E."
                            },
                            {
                                "name": "Hembrom A.A."
                            },
                            {
                                "name": "Paynter V.M."
                            },
                            {
                                "name": "Vinther J."
                            },
                            {
                                "name": "Wyrozemski L."
                            },
                            {
                                "name": "Biryukova I."
                            },
                            {
                                "name": "Formaggioni A."
                            },
                            {
                                "name": "Ovchinnikov V."
                            },
                            {
                                "name": "Herlyn H."
                            },
                            {
                                "name": "Pierce A."
                            },
                            {
                                "name": "Wu C."
                            },
                            {
                                "name": "Aslanzadeh M."
                            },
                            {
                                "name": "Cheneby J."
                            },
                            {
                                "name": "Martinez P."
                            },
                            {
                                "name": "Friedlander M.R."
                            },
                            {
                                "name": "Hovig E."
                            },
                            {
                                "name": "Hackenberg M."
                            },
                            {
                                "name": "Umu S.U."
                            },
                            {
                                "name": "Johansen M."
                            },
                            {
                                "name": "Peterson K.J."
                            },
                            {
                                "name": "Fromm B."
                            }
                        ],
                        "journal": "Nucleic Acids Research"
                    }
                }
            ],
            "credit": [
                {
                    "name": "Bastian Fromm",
                    "email": "BastianFromm@gmail.com",
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                },
                {
                    "name": "The Norwegian Bioinformatics Platform (ELIXIR-Norway) Helpdesk",
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            "description": "RepeatModeler is a de novo transposable element (TE) family identification and modeling package. At the heart of RepeatModeler are three de-novo repeat finding programs ( RECON, RepeatScout and LtrHarvest/Ltr_retriever ) which employ complementary computational methods for identifying repeat element boundaries and family relationships from sequence data.",
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                            "term": "de Novo sequencing"
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                    "term": "Sequence composition, complexity and repeats"
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                    "term": "Whole genome sequencing"
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                    "term": "Sequence assembly"
                },
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                    "term": "Mobile genetic elements"
                }
            ],
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                    "doi": "10.1093/nar/gks1219",
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                    "pmcid": "PMC3531112",
                    "type": [
                        "Primary"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "The SILVA ribosomal RNA gene database project: Improved data processing and web-based tools",
                        "abstract": "SILVA (from Latin silva, forest, http://www.arb-silva.de) is a comprehensive web resource for up to date, quality-controlled databases of aligned ribosomal RNA (rRNA) gene sequences from the Bacteria, Archaea and Eukaryota domains and supplementary online services. The referred database release 111 (July 2012) contains 3194 778 small subunit and 288717 large subunit rRNA gene sequences. Since the initial description of the project, substantial new features have been introduced, including advanced quality control procedures, an improved rRNA gene aligner, online tools for probe and primer evaluation and optimized browsing, searching and downloading on the website. Furthermore, the extensively curated SILVA taxonomy and the new non-redundant SILVA datasets provide an ideal reference for high-throughput classification of data from next-generation sequencing approaches. © The Author(s) 2012.",
                        "date": "2013-01-01T00:00:00Z",
                        "citationCount": 22633,
                        "authors": [
                            {
                                "name": "Quast C."
                            },
                            {
                                "name": "Pruesse E."
                            },
                            {
                                "name": "Yilmaz P."
                            },
                            {
                                "name": "Gerken J."
                            },
                            {
                                "name": "Schweer T."
                            },
                            {
                                "name": "Yarza P."
                            },
                            {
                                "name": "Peplies J."
                            },
                            {
                                "name": "Glockner F.O."
                            }
                        ],
                        "journal": "Nucleic Acids Research"
                    }
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                {
                    "doi": "10.1093/nar/gkt1209",
                    "pmid": "24293649",
                    "pmcid": "PMC3965112",
                    "type": [
                        "Primary"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "The SILVA and \"all-species Living Tree Project (LTP)\" taxonomic frameworks",
                        "abstract": "SILVA (from Latin silva, forest, http://www.arb-silva.de) is a comprehensive resource for up-to-date quality-controlled databases of aligned ribosomal RNA (rRNA) gene sequences from the Bacteria, Archaea and Eukaryota domains and supplementary online services. SILVA provides a manually curated taxonomy for all three domains of life, based on representative phylogenetic trees for the small- and large-subunit rRNA genes. This article describes the improvements the SILVA taxonomy has undergone in the last 3 years. Specifically we are focusing on the curation process, the various resources used for curation and the comparison of the SILVA taxonomy with Greengenes and RDP-II taxonomies. Our comparisons not only revealed a reasonable overlap between the taxa names, but also points to significant differences in both names and numbers of taxa between the three resources. © 2013 The Author(s). Published by Oxford University Press.",
                        "date": "2014-01-01T00:00:00Z",
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                        "authors": [
                            {
                                "name": "Yilmaz P."
                            },
                            {
                                "name": "Parfrey L.W."
                            },
                            {
                                "name": "Yarza P."
                            },
                            {
                                "name": "Gerken J."
                            },
                            {
                                "name": "Pruesse E."
                            },
                            {
                                "name": "Quast C."
                            },
                            {
                                "name": "Schweer T."
                            },
                            {
                                "name": "Peplies J."
                            },
                            {
                                "name": "Ludwig W."
                            },
                            {
                                "name": "Glockner F.O."
                            }
                        ],
                        "journal": "Nucleic Acids Research"
                    }
                },
                {
                    "doi": "10.1093/bioinformatics/bts252",
                    "pmid": "22556368",
                    "pmcid": "PMC3389763",
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                        "Primary"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "SINA: Accurate high-throughput multiple sequence alignment of ribosomal RNA genes",
                        "abstract": "Motivation: In the analysis of homologous sequences, computation of multiple sequence alignments (MSAs) has become a bottleneck. This is especially troublesome for marker genes like the ribosomal RNA (rRNA) where already millions of sequences are publicly available and individual studies can easily produce hundreds of thousands of new sequences. Methods have been developed to cope with such numbers, but further improvements are needed to meet accuracy requirements.Results: In this study, we present the SILVA Incremental Aligner (SINA) used to align the rRNA gene databases provided by the SILVA ribosomal RNA project. SINA uses a combination of k-mer searching and partial order alignment (POA) to maintain very high alignment accuracy while satisfying high throughput performance demands. SINA was evaluated in comparison with the commonly used high throughput MSA programs PyNAST and mothur. The three BRAliBase III benchmark MSAs could be reproduced with 99.3, 97.6 and 96.1 accuracy. A larger benchmark MSA comprising 38 772 sequences could be reproduced with 98.9 and 99.3% accuracy using reference MSAs comprising 1000 and 5000 sequences. SINA was able to achieve higher accuracy than PyNAST and mothur in all performed benchmarks. © The Author(s) 2012. Published by Oxford University Press.",
                        "date": "2012-07-01T00:00:00Z",
                        "citationCount": 2408,
                        "authors": [
                            {
                                "name": "Pruesse E."
                            },
                            {
                                "name": "Peplies J."
                            },
                            {
                                "name": "Glockner F.O."
                            }
                        ],
                        "journal": "Bioinformatics"
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                }
            ],
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                    "type": [
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                    "metadata": {
                        "title": "DeepSig: Deep learning improves signal peptide detection in proteins",
                        "abstract": "Motivation The identification of signal peptides in protein sequences is an important step toward protein localization and function characterization. Results Here, we present DeepSig, an improved approach for signal peptide detection and cleavage-site prediction based on deep learning methods. Comparative benchmarks performed on an updated independent dataset of proteins show that DeepSig is the current best performing method, scoring better than other available state-of-the-art approaches on both signal peptide detection and precise cleavage-site identification. Availability and implementation DeepSig is available as both standalone program and web server at https://deepsig.biocomp.unibo.it. All datasets used in this study can be obtained from the same website.",
                        "date": "2018-05-15T00:00:00Z",
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                                "name": "Savojardo C."
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                            {
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                            {
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                            {
                                "name": "Casadio R."
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                                "uri": "http://edamontology.org/data_3494",
                                "term": "DNA sequence"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1930",
                                    "term": "FASTQ"
                                },
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_3028",
                                "term": "Taxonomy"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_3475",
                                    "term": "TSV"
                                }
                            ]
                        }
                    ],
                    "note": null,
                    "cmd": "`kraken2 --db <kraken2_database> <input.fastq>`"
                }
            ],
            "toolType": [
                "Command-line tool"
            ],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_0637",
                    "term": "Taxonomy"
                },
                {
                    "uri": "http://edamontology.org/topic_3174",
                    "term": "Metagenomics"
                },
                {
                    "uri": "http://edamontology.org/topic_3697",
                    "term": "Microbial ecology"
                },
                {
                    "uri": "http://edamontology.org/topic_3301",
                    "term": "Microbiology"
                }
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            "language": [
                "C++",
                "Perl"
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            "cost": "Free of charge",
            "accessibility": "Open access",
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            "link": [
                {
                    "url": "https://github.com/DerrickWood/kraken2",
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                        "Repository"
                    ],
                    "note": null
                },
                {
                    "url": "https://github.com/DerrickWood/kraken2/issues",
                    "type": [
                        "Issue tracker"
                    ],
                    "note": null
                }
            ],
            "download": [
                {
                    "url": "https://github.com/DerrickWood/kraken2/archive/v2.0.8-beta.tar.gz",
                    "type": "Source code",
                    "note": null,
                    "version": "2.0.8-beta"
                }
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            "documentation": [
                {
                    "url": "https://github.com/DerrickWood/kraken2/wiki/Manual",
                    "type": [
                        "User manual"
                    ],
                    "note": null
                },
                {
                    "url": "https://benlangmead.github.io/aws-indexes/k2",
                    "type": [
                        "User manual"
                    ],
                    "note": "Links to multiple Kraken 2 and bracken databases and indexes"
                }
            ],
            "publication": [
                {
                    "doi": "10.1101/762302",
                    "pmid": null,
                    "pmcid": null,
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": null
                }
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                    "name": "Derrick E. Wood",
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                    "rorid": null,
                    "fundrefid": null,
                    "typeEntity": "Person",
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                    "note": null
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                    "name": "Ben Langmead",
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                    "url": null,
                    "orcidid": "http://orcid.org/0000-0003-2437-1976",
                    "gridid": null,
                    "rorid": null,
                    "fundrefid": null,
                    "typeEntity": "Person",
                    "typeRole": [],
                    "note": null
                }
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        {
            "name": "NextDenovo",
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            "homepage": "https://github.com/Nextomics/NextDenovo",
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            "version": [
                "v.2.5.2"
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            "function": [
                {
                    "operation": [
                        {
                            "uri": "http://edamontology.org/operation_0524",
                            "term": "De-novo assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_0525",
                            "term": "Genome assembly"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_0924",
                                "term": "Sequence trace"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                },
                                {
                                    "uri": "http://edamontology.org/format_1930",
                                    "term": "FASTQ"
                                }
                            ]
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_0925",
                                "term": "Sequence assembly"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_2561",
                                    "term": "Sequence assembly format (text)"
                                },
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "note": null,
                    "cmd": null
                }
            ],
            "toolType": [
                "Command-line tool"
            ],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_3168",
                    "term": "Sequencing"
                },
                {
                    "uri": "http://edamontology.org/topic_0196",
                    "term": "Sequence assembly"
                }
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            "language": [
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                "C"
            ],
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            "cost": "Free of charge",
            "accessibility": "Open access",
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            "elixirNode": [],
            "elixirCommunity": [],
            "link": [
                {
                    "url": "https://github.com/Nextomics/NextDenovo/issues",
                    "type": [
                        "Issue tracker"
                    ],
                    "note": null
                }
            ],
            "download": [
                {
                    "url": "https://github.com/Nextomics/NextDenovo/releases/tag/2.5.2",
                    "type": "Source code",
                    "note": null,
                    "version": null
                }
            ],
            "documentation": [
                {
                    "url": "https://nextdenovo.readthedocs.io/en/latest/",
                    "type": [
                        "User manual"
                    ],
                    "note": null
                }
            ],
            "publication": [
                {
                    "doi": "10.1101/2023.03.09.531669.",
                    "pmid": null,
                    "pmcid": null,
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": null
                }
            ],
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                    "name": "Nextomics",
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            "confidence_flag": null
        },
        {
            "name": "quickmerge",
            "description": "Quickmerge is a program that uses complementary information from genomes assembled with long reads in order to improve contiguity, and works with assemblies derived from both Pacific Biosciences or Oxford Nanopore. Quickmerge will even work with hybrid assemblies made by combining long reads and Illumina short reads.",
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                    "operation": [
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                            "uri": "http://edamontology.org/operation_0525",
                            "term": "Genome assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_3216",
                            "term": "Scaffolding"
                        },
                        {
                            "uri": "http://edamontology.org/operation_0524",
                            "term": "De-novo assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_3196",
                            "term": "Genotyping"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "note": "Runs whole merge process on an input assembly.\nAssembly 2 will be used to fill gaps in assembly 1.",
                    "cmd": "merge_wrapper.py -pre output_prefix assembly_1.fa assembly_2.fa"
                }
            ],
            "toolType": [
                "Command-line tool"
            ],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_3175",
                    "term": "Structural variation"
                },
                {
                    "uri": "http://edamontology.org/topic_0196",
                    "term": "Sequence assembly"
                },
                {
                    "uri": "http://edamontology.org/topic_2885",
                    "term": "DNA polymorphism"
                },
                {
                    "uri": "http://edamontology.org/topic_3673",
                    "term": "Whole genome sequencing"
                },
                {
                    "uri": "http://edamontology.org/topic_0625",
                    "term": "Genotype and phenotype"
                }
            ],
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                "Mac",
                "Linux"
            ],
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                "C++",
                "C"
            ],
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                "ONTeater"
            ],
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            "cost": "Free of charge",
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            "link": [
                {
                    "url": "https://github.com/mahulchak/quickmerge/issues",
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                        "Issue tracker"
                    ],
                    "note": null
                },
                {
                    "url": "https://github.com/mahulchak/quickmerge",
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                        "Repository"
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            ],
            "download": [],
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            "publication": [
                {
                    "doi": "10.1534/g3.118.200162",
                    "pmid": "30018084",
                    "pmcid": "PMC6169397",
                    "type": [
                        "Primary"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "Rapid low-cost assembly of the drosophila melanogaster reference genome using low-coverage, long-read sequencing",
                        "abstract": "Accurate and comprehensive characterization of genetic variation is essential for deciphering the genetic basis of diseases and other phenotypes. A vast amount of genetic variation stems from largescale sequence changes arising from the duplication, deletion, inversion, and translocation of sequences. In the past 10 years, high-throughput short reads have greatly expanded our ability to assay sequence variation due to single nucleotide polymorphisms. However, a recent de novo assembly of a second Drosophila melanogaster reference genome has revealed that short read genotyping methods miss hundreds of structural variants, including those affecting phenotypes. While genomes assembled using highcoverage long reads can achieve high levels of contiguity and completeness, concerns about cost, errors, and low yield have limited widespread adoption of such sequencing approaches. Here we resequenced the reference strain of D. melanogaster (ISO1) on a single Oxford Nanopore MinION flow cell run for 24 hr. Using only reads longer than 1 kb or with at least 30x coverage, we assembled a highly contiguous de novo genome. The addition of inexpensive paired reads and subsequent scaffolding using an optical map technology achieved an assembly with completeness and contiguity comparable to the D. melanogaster reference assembly. Comparison of our assembly to the reference assembly of ISO1 uncovered a number of structural variants (SVs), including novel LTR transposable element insertions and duplications affecting genes with developmental, behavioral, and metabolic functions. Collectively, these SVs provide a snapshot of the dynamics of genome evolution. Furthermore, our assembly and comparison to the D. melanogaster reference genome demonstrates that high-quality de novo assembly of reference genomes and comprehensive variant discovery using such assemblies are now possible by a single lab for under $1,000 (USD).",
                        "date": "2018-10-01T00:00:00Z",
                        "citationCount": 70,
                        "authors": [
                            {
                                "name": "Solares E.A."
                            },
                            {
                                "name": "Chakraborty M."
                            },
                            {
                                "name": "Miller D.E."
                            },
                            {
                                "name": "Kalsow S."
                            },
                            {
                                "name": "Hall K."
                            },
                            {
                                "name": "Perera A.G."
                            },
                            {
                                "name": "Emerson J.J."
                            },
                            {
                                "name": "Scott Hawley R."
                            }
                        ],
                        "journal": "G3: Genes, Genomes, Genetics"
                    }
                }
            ],
            "credit": [
                {
                    "name": "Mahul Chakraborty",
                    "email": null,
                    "url": "https://mahulchakraborty.wordpress.com/",
                    "orcidid": "https://orcid.org/0000-0003-2414-9187",
                    "gridid": null,
                    "rorid": null,
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                    "typeEntity": "Person",
                    "typeRole": [
                        "Primary contact"
                    ],
                    "note": null
                }
            ],
            "owner": "Kigaard",
            "additionDate": "2021-05-27T09:04:45Z",
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            },
            "validated": 0,
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            "elixir_badge": 0,
            "confidence_flag": null
        },
        {
            "name": "QUAST",
            "description": "QUAST stands for QUality ASsessment Tool.  \nIt evaluates a quality of genome assemblies by computing various metrics and providing nice reports.",
            "homepage": "http://quast.sourceforge.net/quast",
            "biotoolsID": "quast",
            "biotoolsCURIE": "biotools:quast",
            "version": [
                "v.5.3.0"
            ],
            "otherID": [],
            "relation": [],
            "function": [
                {
                    "operation": [
                        {
                            "uri": "http://edamontology.org/operation_0337",
                            "term": "Visualisation"
                        },
                        {
                            "uri": "http://edamontology.org/operation_3180",
                            "term": "Sequence assembly validation"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "output": [],
                    "note": "# Running quast on a eukaryotic genome",
                    "cmd": "quast -ek assembly.fa --out output_prefix"
                }
            ],
            "toolType": [
                "Workflow"
            ],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_0196",
                    "term": "Sequence assembly"
                }
            ],
            "operatingSystem": [
                "Linux",
                "Mac"
            ],
            "language": [
                "Perl",
                "Python",
                "C"
            ],
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                "ONTeater"
            ],
            "maturity": "Mature",
            "cost": "Free of charge",
            "accessibility": "Open access",
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            "elixirNode": [],
            "elixirCommunity": [],
            "link": [
                {
                    "url": "https://github.com/ablab/quast",
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                        "Repository"
                    ],
                    "note": null
                },
                {
                    "url": "https://github.com/ablab/quast/issues",
                    "type": [
                        "Issue tracker"
                    ],
                    "note": null
                }
            ],
            "download": [],
            "documentation": [
                {
                    "url": "http://quast.bioinf.spbau.ru/",
                    "type": [
                        "General"
                    ],
                    "note": null
                }
            ],
            "publication": [
                {
                    "doi": "10.1093/bioinformatics/btt086",
                    "pmid": "23422339",
                    "pmcid": "PMC3624806",
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "QUAST: Quality assessment tool for genome assemblies",
                        "abstract": "Limitations of genome sequencing techniques have led to dozens of assembly algorithms, none of which is perfect. A number of methods for comparing assemblers have been developed, but none is yet a recognized benchmark. Further, most existing methods for comparing assemblies are only applicable to new assemblies of finished genomes; the problem of evaluating assemblies of previously unsequenced species has not been adequately considered. Here, we present QUAST - a quality assessment tool for evaluating and comparing genome assemblies. This tool improves on leading assembly comparison software with new ideas and quality metrics. QUAST can evaluate assemblies both with a reference genome, as well as without a reference. QUAST produces many reports, summary tables and plots to help scientists in their research and in their publications. In this study, we used QUAST to compare several genome assemblers on three datasets. QUAST tables and plots for all of them are available in the Supplementary Material, and interactive versions of these reports are on the QUAST website. © 2013 The Author.",
                        "date": "2013-04-15T00:00:00Z",
                        "citationCount": 6872,
                        "authors": [
                            {
                                "name": "Gurevich A."
                            },
                            {
                                "name": "Saveliev V."
                            },
                            {
                                "name": "Vyahhi N."
                            },
                            {
                                "name": "Tesler G."
                            }
                        ],
                        "journal": "Bioinformatics"
                    }
                }
            ],
            "credit": [
                {
                    "name": "QUAST Support",
                    "email": "quast.support@cab.spbu.ru",
                    "url": null,
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                    "typeEntity": "Person",
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                }
            ],
            "owner": "seqwiki_import",
            "additionDate": "2017-01-13T13:16:01Z",
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            },
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            "elixir_badge": 0,
            "confidence_flag": null
        },
        {
            "name": "Racon",
            "description": "Consensus module for raw de novo DNA assembly of long uncorrected reads\n\nRacon is intended as a standalone consensus module to correct raw contigs generated by rapid assembly methods which do not include a consensus step. The goal of Racon is to generate genomic consensus which is of similar or better quality compared to the output generated by assembly methods which employ both error correction and consensus steps, while providing a speedup of several times compared to those methods. It supports data produced by both Pacific Biosciences and Oxford Nanopore Technologies.",
            "homepage": "https://github.com/isovic/racon",
            "biotoolsID": "Racon",
            "biotoolsCURIE": "biotools:Racon",
            "version": [],
            "otherID": [],
            "relation": [],
            "function": [
                {
                    "operation": [
                        {
                            "uri": "http://edamontology.org/operation_0525",
                            "term": "Genome assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_0523",
                            "term": "Mapping assembly"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1383",
                                "term": "Nucleic acid sequence alignment"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_2572",
                                    "term": "BAM"
                                },
                                {
                                    "uri": "http://edamontology.org/format_2573",
                                    "term": "SAM"
                                }
                            ]
                        },
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1930",
                                    "term": "FASTQ"
                                }
                            ]
                        },
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "note": "# The mapping file can be generated with any mapping program - eg, bwa-mem or minimap2.\n# The following is an example using minimap2 with ONT data\nminimap2 assembly.fa-ax map-ont reads.fa > mapped_reads.sam",
                    "cmd": "racon -u reads.fa mapped_reads.sam assembly.fa > assembly_racon.fa"
                }
            ],
            "toolType": [],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_3673",
                    "term": "Whole genome sequencing"
                },
                {
                    "uri": "http://edamontology.org/topic_0196",
                    "term": "Sequence assembly"
                }
            ],
            "operatingSystem": [
                "Mac",
                "Linux"
            ],
            "language": [
                "C++",
                "Python"
            ],
            "license": "MIT",
            "collectionID": [
                "ONTeater"
            ],
            "maturity": null,
            "cost": "Free of charge",
            "accessibility": "Open access",
            "elixirPlatform": [],
            "elixirNode": [],
            "elixirCommunity": [],
            "link": [
                {
                    "url": "https://github.com/isovic/racon",
                    "type": [
                        "Repository"
                    ],
                    "note": null
                },
                {
                    "url": "https://github.com/isovic/racon/issues",
                    "type": [
                        "Issue tracker"
                    ],
                    "note": null
                }
            ],
            "download": [],
            "documentation": [],
            "publication": [
                {
                    "doi": "10.3390/plants8080270",
                    "pmid": "31390788",
                    "pmcid": "PMC6724115",
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "Constructing a reference genome in a single lab: The possibility to use oxford nanopore technology",
                        "abstract": "The whole genome sequencing (WGS) has become a crucial tool in understanding genome structure and genetic variation. The MinION sequencing of Oxford Nanopore Technologies (ONT) is an excellent approach for performing WGS and it has advantages in comparison with other Next-Generation Sequencing (NGS): It is relatively inexpensive, portable, has simple library preparation, can be monitored in real-time, and has no theoretical limits on reading length. Sorghum bicolor (L.) Moench is diploid (2n = 2x = 20) with a genome size of about 730 Mb, and its genome sequence information is released in the Phytozome database. Therefore, sorghum can be used as a good reference. However, plant species have complex and large genomes when compared to animals or microorganisms. As a result, complete genome sequencing is difficult for plant species. MinION sequencing that produces long-reads can be an excellent tool for overcoming the weak assembly of short-reads generated from NGS by minimizing the generation of gaps or covering the repetitive sequence that appears on the plant genome. Here, we conducted the genome sequencing for S. bicolor cv. BTx623 while using the MinION platform and obtained 895,678 reads and 17.9 gigabytes (Gb) (ca. 25× coverage of reference) from long-read sequence data. A total of 6124 contigs (covering 45.9%) were generated from Canu, and a total of 2661 contigs (covering 50%) were generated from Minimap and Miniasm with a Racon through a de novo assembly using two different tools and mapped assembled contigs against the sorghum reference genome. Our results provide an optimal series of long-read sequencing analysis for plant species while using the MinION platform and a clue to determine the total sequencing scale for optimal coverage that is based on various genome sizes.",
                        "date": "2019-08-01T00:00:00Z",
                        "citationCount": 13,
                        "authors": [
                            {
                                "name": "Lee Y.G."
                            },
                            {
                                "name": "Choi S.C."
                            },
                            {
                                "name": "Kang Y."
                            },
                            {
                                "name": "Kim K.M."
                            },
                            {
                                "name": "Kang C.-S."
                            },
                            {
                                "name": "Kim C."
                            }
                        ],
                        "journal": "Plants"
                    }
                }
            ],
            "credit": [
                {
                    "name": "Chon-Sik Kang",
                    "email": "cskang@korea.kr",
                    "url": null,
                    "orcidid": null,
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                },
                {
                    "name": "Changsoo Kim",
                    "email": "changsookim@cnu.ac.kr",
                    "url": null,
                    "orcidid": "https://orcid.org/0000-0002-3596-2934",
                    "gridid": null,
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        },
        {
            "name": "Flye",
            "description": "Flye is a de novo assembler for single molecule sequencing reads, such as those produced by PacBio and Oxford Nanopore Technologies. It is designed for a wide range of datasets, from small bacterial projects to large mammalian-scale assemblies. The package represents a complete pipeline: it takes raw PB / ONT reads as input and outputs polished contigs.",
            "homepage": "https://github.com/fenderglass/Flye",
            "biotoolsID": "Flye",
            "biotoolsCURIE": "biotools:Flye",
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                "2.9.6"
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            "function": [
                {
                    "operation": [
                        {
                            "uri": "http://edamontology.org/operation_0525",
                            "term": "Genome assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_0524",
                            "term": "De-novo assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_0523",
                            "term": "Mapping assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_3730",
                            "term": "Cross-assembly"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1930",
                                    "term": "FASTQ"
                                }
                            ]
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "note": null,
                    "cmd": null
                }
            ],
            "toolType": [
                "Command-line tool",
                "Workflow"
            ],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_0196",
                    "term": "Sequence assembly"
                },
                {
                    "uri": "http://edamontology.org/topic_3174",
                    "term": "Metagenomics"
                },
                {
                    "uri": "http://edamontology.org/topic_3673",
                    "term": "Whole genome sequencing"
                },
                {
                    "uri": "http://edamontology.org/topic_0622",
                    "term": "Genomics"
                }
            ],
            "operatingSystem": [
                "Mac",
                "Linux"
            ],
            "language": [
                "C++",
                "Python",
                "C"
            ],
            "license": "BSD-3-Clause",
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                "ONTeater"
            ],
            "maturity": null,
            "cost": "Free of charge",
            "accessibility": "Open access",
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            "link": [
                {
                    "url": "https://github.com/fenderglass/Flye/issues",
                    "type": [
                        "Issue tracker"
                    ],
                    "note": null
                },
                {
                    "url": "https://github.com/mikolmogorov/Flye",
                    "type": [
                        "Repository"
                    ],
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                }
            ],
            "download": [],
            "documentation": [],
            "publication": [
                {
                    "doi": "10.1099/mgen.0.000294",
                    "pmid": "31483244",
                    "pmcid": "PMC6807382",
                    "type": [
                        "Usage"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "Comparison of long-read sequencing technologies in the hybrid assembly of complex bacterial genomes",
                        "abstract": "Illumina sequencing allows rapid, cheap and accurate whole genome bacterial analyses, but short reads (<300 bp) do not usually enable complete genome assembly. Long-read sequencing greatly assists with resolving complex bacterial genomes, particularly when combined with short-read Illumina data (hybrid assembly). However, it is not clear how different long-read sequencing methods affect hybrid assembly accuracy. Relative automation of the assembly process is also crucial to facilitating high-throughput complete bacterial genome reconstruction, avoiding multiple bespoke filtering and data manipulation steps. In this study, we compared hybrid assemblies for 20 bacterial isolates, including two reference strains, using Illumina sequencing and long reads from either Oxford Nanopore Technologies (ONT) or SMRT Pacific Biosciences (PacBio) sequencing platforms. We chose isolates from the family Enterobacteriaceae, as these frequently have highly plastic, repetitive genetic structures, and complete genome reconstruction for these species is relevant for a precise understanding of the epidemiology of antimicrobial resistance. We de novo assembled genomes using the hybrid assembler Unicycler and compared different read processing strategies, as well as comparing to long-read-only assembly with Flye followed by short-read polishing with Pilon. Hybrid assembly with either PacBio or ONT reads facilitated high-quality genome reconstruction, and was superior to the longread assembly and polishing approach evaluated with respect to accuracy and completeness. Combining ONT and Illumina reads fully resolved most genomes without additional manual steps, and at a lower consumables cost per isolate in our setting. Automated hybrid assembly is a powerful tool for complete and accurate bacterial genome assembly.",
                        "date": "2019-01-01T00:00:00Z",
                        "citationCount": 166,
                        "authors": [
                            {
                                "name": "De Maio N."
                            },
                            {
                                "name": "Shaw L.P."
                            },
                            {
                                "name": "Hubbard A."
                            },
                            {
                                "name": "George S."
                            },
                            {
                                "name": "Sanderson N.D."
                            },
                            {
                                "name": "Swann J."
                            },
                            {
                                "name": "Wick R."
                            },
                            {
                                "name": "Oun M.A."
                            },
                            {
                                "name": "Stubberfield E."
                            },
                            {
                                "name": "Hoosdally S.J."
                            },
                            {
                                "name": "Crook D.W."
                            },
                            {
                                "name": "Peto T.E.A."
                            },
                            {
                                "name": "Sheppard A.E."
                            },
                            {
                                "name": "Bailey M.J."
                            },
                            {
                                "name": "Read D.S."
                            },
                            {
                                "name": "Anjum M.F."
                            },
                            {
                                "name": "Sarah Walker A."
                            },
                            {
                                "name": "Stoesser N."
                            }
                        ],
                        "journal": "Microbial Genomics"
                    }
                },
                {
                    "doi": "10.1038/s41587-019-0072-8",
                    "pmid": "30936562",
                    "pmcid": null,
                    "type": [
                        "Primary"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "Assembly of long, error-prone reads using repeat graphs",
                        "abstract": "Accurate genome assembly is hampered by repetitive regions. Although long single molecule sequencing reads are better able to resolve genomic repeats than short-read data, most long-read assembly algorithms do not provide the repeat characterization necessary for producing optimal assemblies. Here, we present Flye, a long-read assembly algorithm that generates arbitrary paths in an unknown repeat graph, called disjointigs, and constructs an accurate repeat graph from these error-riddled disjointigs. We benchmark Flye against five state-of-the-art assemblers and show that it generates better or comparable assemblies, while being an order of magnitude faster. Flye nearly doubled the contiguity of the human genome assembly (as measured by the NGA50 assembly quality metric) compared with existing assemblers.",
                        "date": "2019-05-01T00:00:00Z",
                        "citationCount": 3077,
                        "authors": [
                            {
                                "name": "Kolmogorov M."
                            },
                            {
                                "name": "Yuan J."
                            },
                            {
                                "name": "Lin Y."
                            },
                            {
                                "name": "Pevzner P.A."
                            }
                        ],
                        "journal": "Nature Biotechnology"
                    }
                },
                {
                    "doi": "10.1038/s41592-020-00971-x",
                    "pmid": "33020656",
                    "pmcid": "PMC10699202",
                    "type": [
                        "Primary"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "metaFlye: scalable long-read metagenome assembly using repeat graphs",
                        "abstract": "Long-read sequencing technologies have substantially improved the assemblies of many isolate bacterial genomes as compared to fragmented short-read assemblies. However, assembling complex metagenomic datasets remains difficult even for state-of-the-art long-read assemblers. Here we present metaFlye, which addresses important long-read metagenomic assembly challenges, such as uneven bacterial composition and intra-species heterogeneity. First, we benchmarked metaFlye using simulated and mock bacterial communities and show that it consistently produces assemblies with better completeness and contiguity than state-of-the-art long-read assemblers. Second, we performed long-read sequencing of the sheep microbiome and applied metaFlye to reconstruct 63 complete or nearly complete bacterial genomes within single contigs. Finally, we show that long-read assembly of human microbiomes enables the discovery of full-length biosynthetic gene clusters that encode biomedically important natural products.",
                        "date": "2020-11-01T00:00:00Z",
                        "citationCount": 511,
                        "authors": [
                            {
                                "name": "Kolmogorov M."
                            },
                            {
                                "name": "Bickhart D.M."
                            },
                            {
                                "name": "Behsaz B."
                            },
                            {
                                "name": "Gurevich A."
                            },
                            {
                                "name": "Rayko M."
                            },
                            {
                                "name": "Shin S.B."
                            },
                            {
                                "name": "Kuhn K."
                            },
                            {
                                "name": "Yuan J."
                            },
                            {
                                "name": "Polevikov E."
                            },
                            {
                                "name": "Smith T.P.L."
                            },
                            {
                                "name": "Pevzner P.A."
                            }
                        ],
                        "journal": "Nature Methods"
                    }
                }
            ],
            "credit": [
                {
                    "name": "Mikhail Kolmogorov",
                    "email": "fenderglass@gmail.com",
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                    "typeRole": [
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                        "Support"
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                },
                {
                    "name": "Yu Lin",
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                    ],
                    "note": null
                },
                {
                    "name": "Jeffrey Yuan",
                    "email": null,
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                }
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        },
        {
            "name": "BUSCO",
            "description": "Provides measures for quantitative assessment of genome assembly, gene set, and transcriptome completeness based on evolutionarily informed expectations of gene content from near-universal single-copy orthologs.",
            "homepage": "https://busco.ezlab.org/",
            "biotoolsID": "busco",
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            "version": [
                "1"
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                {
                    "operation": [
                        {
                            "uri": "http://edamontology.org/operation_3180",
                            "term": "Sequence assembly validation"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_1234",
                                "term": "Sequence set (nucleic acid)"
                            },
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                                {
                                    "uri": "http://edamontology.org/format_1929",
                                    "term": "FASTA"
                                }
                            ]
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_2955",
                                "term": "Sequence report"
                            },
                            "format": []
                        }
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                }
            ],
            "toolType": [
                "Command-line tool"
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            "topic": [
                {
                    "uri": "http://edamontology.org/topic_0196",
                    "term": "Sequence assembly"
                },
                {
                    "uri": "http://edamontology.org/topic_0622",
                    "term": "Genomics"
                },
                {
                    "uri": "http://edamontology.org/topic_3308",
                    "term": "Transcriptomics"
                },
                {
                    "uri": "http://edamontology.org/topic_0080",
                    "term": "Sequence analysis"
                }
            ],
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                "Linux"
            ],
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                "Python"
            ],
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                "Switzerland"
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            "documentation": [
                {
                    "url": "https://busco.ezlab.org/busco_userguide.html",
                    "type": [
                        "User manual"
                    ],
                    "note": null
                }
            ],
            "publication": [
                {
                    "doi": "10.1093/bioinformatics/btv351",
                    "pmid": "26059717",
                    "pmcid": null,
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "BUSCO: Assessing genome assembly and annotation completeness with single-copy orthologs",
                        "abstract": "Motivation: Genomics has revolutionized biological research, but quality assessment of the resulting assembled sequences is complicated and remains mostly limited to technical measures like N50. Results: We propose a measure for quantitative assessment of genome assembly and annotation completeness based on evolutionarily informed expectations of gene content. We implemented the assessment procedure in open-source software, with sets of Benchmarking Universal Single-Copy Orthologs, named BUSCO.",
                        "date": "2015-10-01T00:00:00Z",
                        "citationCount": 8766,
                        "authors": [
                            {
                                "name": "Simao F.A."
                            },
                            {
                                "name": "Waterhouse R.M."
                            },
                            {
                                "name": "Ioannidis P."
                            },
                            {
                                "name": "Kriventseva E.V."
                            },
                            {
                                "name": "Zdobnov E.M."
                            }
                        ],
                        "journal": "Bioinformatics"
                    }
                },
                {
                    "doi": "10.1002/cpz1.323",
                    "pmid": "34936221",
                    "pmcid": null,
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "BUSCO: Assessing Genomic Data Quality and Beyond",
                        "abstract": "Evaluation of the quality of genomic “data products” such as genome assemblies or gene sets is of critical importance in order to recognize possible issues and correct them during the generation of new data. It is equally essential to guide subsequent or comparative analyses with existing data, as the correct interpretation of the results necessarily requires knowledge about the quality level and reliability of the inputs. Using datasets of near universal single-copy orthologs derived from OrthoDB, BUSCO can estimate the completeness and redundancy of genomic data by providing biologically meaningful metrics based on expected gene content. These can complement technical metrics such as contiguity measures (e.g., number of contigs/scaffolds, and N50 values). Here, we describe the use of the BUSCO tool suite to assess different data types that can range from genome assemblies of single isolates and assembled transcriptomes and annotated gene sets to metagenome-assembled genomes where the taxonomic origin of the species is unknown. BUSCO is the only tool capable of assessing all these types of sequences from both eukaryotic and prokaryotic species. The protocols detail the various BUSCO running modes and the novel workflows introduced in versions 4 and 5, including the batch analysis on multiple inputs, the auto-lineage workflow to run assessments without specifying a dataset, and a workflow for the evaluation of (large) eukaryotic genomes. The protocols further cover the BUSCO setup, guidelines to interpret the results, and BUSCO “plugin” workflows for performing common operations in genomics using BUSCO results, such as building phylogenomic trees and visualizing syntenies. © 2021 The Authors. Current Protocols published by Wiley Periodicals LLC. Basic Protocol 1: Assessing an input sequence with a BUSCO dataset specified manually. Basic Protocol 2: Assessing an input sequence with a dataset automatically selected by BUSCO. Basic Protocol 3: Assessing multiple inputs. Alternate Protocol: Decreasing analysis runtime when assessing a large number of small genomes with BUSCO auto-lineage workflow and Snakemake. Support Protocol 1: BUSCO setup. Support Protocol 2: Visualizing BUSCO results. Support Protocol 3: Building phylogenomic trees.",
                        "date": "2021-12-01T00:00:00Z",
                        "citationCount": 566,
                        "authors": [
                            {
                                "name": "Manni M."
                            },
                            {
                                "name": "Berkeley M.R."
                            },
                            {
                                "name": "Seppey M."
                            },
                            {
                                "name": "Zdobnov E.M."
                            }
                        ],
                        "journal": "Current Protocols"
                    }
                },
                {
                    "doi": "10.1093/molbev/msx319",
                    "pmid": "29220515",
                    "pmcid": "PMC5850278",
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "BUSCO applications from quality assessments to gene prediction and phylogenomics",
                        "abstract": "Genomics promises comprehensive surveying of genomes and metagenomes, but rapidly changing technologies and expanding data volumes make evaluation of completeness a challenging task. Technical sequencing quality metrics can be complemented by quantifying completeness of genomic data sets in terms of the expected gene content of Benchmarking Universal Single-Copy Orthologs (BUSCO, http://busco.ezlab.org). The latest software release implements a complete refactoring of the code tomake itmore flexible and extendable to facilitate high-Throughput assessments. The original six lineage assessment data sets have been updated with improved species sampling, 34 new subsets have been built for vertebrates, arthropods, fungi, and prokaryotes that greatly enhance resolution, and data sets are now also available for nematodes, protists, and plants. Here, we present BUSCO v3 with example analyses that highlight the wideranging utility of BUSCO assessments, which extend beyond quality control of genomics data sets to applications in comparative genomics analyses, gene predictor training, metagenomics, and phylogenomics.",
                        "date": "2018-03-01T00:00:00Z",
                        "citationCount": 1508,
                        "authors": [
                            {
                                "name": "Waterhouse R.M."
                            },
                            {
                                "name": "Seppey M."
                            },
                            {
                                "name": "Simao F.A."
                            },
                            {
                                "name": "Manni M."
                            },
                            {
                                "name": "Ioannidis P."
                            },
                            {
                                "name": "Klioutchnikov G."
                            },
                            {
                                "name": "Kriventseva E.V."
                            },
                            {
                                "name": "Zdobnov E.M."
                            }
                        ],
                        "journal": "Molecular Biology and Evolution"
                    }
                },
                {
                    "doi": "10.1093/molbev/msab199",
                    "pmid": "34320186",
                    "pmcid": "PMC8476166",
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "BUSCO Update: Novel and Streamlined Workflows along with Broader and Deeper Phylogenetic Coverage for Scoring of Eukaryotic, Prokaryotic, and Viral Genomes",
                        "abstract": "Methods for evaluating the quality of genomic and metagenomic data are essential to aid genome assembly procedures and to correctly interpret the results of subsequent analyses. BUSCO estimates the completeness and redundancy of processed genomic data based on universal single-copy orthologs. Here, we present new functionalities and major improvements of the BUSCO software, as well as the renewal and expansion of the underlying data sets in sync with the OrthoDB v10 release. Among the major novelties, BUSCO now enables phylogenetic placement of the input sequence to automatically select the most appropriate BUSCO data set for the assessment, allowing the analysis of metagenome-Assembled genomes of unknown origin. A newly introduced genome workflow increases the efficiency and runtimes especially on large eukaryotic genomes. BUSCO is the only tool capable of assessing both eukaryotic and prokaryotic species, and can be applied to various data types, from genome assemblies and metagenomic bins, to transcriptomes and gene sets.",
                        "date": "2021-10-01T00:00:00Z",
                        "citationCount": 2710,
                        "authors": [
                            {
                                "name": "Manni M."
                            },
                            {
                                "name": "Berkeley M.R."
                            },
                            {
                                "name": "Seppey M."
                            },
                            {
                                "name": "Simao F.A."
                            },
                            {
                                "name": "Zdobnov E.M."
                            }
                        ],
                        "journal": "Molecular Biology and Evolution"
                    }
                }
            ],
            "credit": [
                {
                    "name": "SIB Swiss Institute of Bioinformatics",
                    "email": null,
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                    "typeEntity": "Institute",
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                        "Provider"
                    ],
                    "note": null
                },
                {
                    "name": null,
                    "email": "evgeny.zdobnov@unige.ch",
                    "url": null,
                    "orcidid": null,
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                    "typeEntity": "Person",
                    "typeRole": [
                        "Primary contact"
                    ],
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                }
            ],
            "owner": "SIB",
            "additionDate": "2016-10-10T07:21:30Z",
            "lastUpdate": "2025-06-17T15:10:57.224896Z",
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            },
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        },
        {
            "name": "HTSlib",
            "description": "The main purpose of HTSlib is to provide access to genomic information files, both alignment data (SAM, BAM, and CRAM formats) and variant data (VCF and BCF formats). The library also provides interfaces to access and index genome reference data in FASTA format and tab-delimited files with genomic coordinates. It is utilized and incorporated into both SAMtools and BCFtools.",
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                        "title": "OpenMS: A flexible open-source software platform for mass spectrometry data analysis",
                        "abstract": "© 2016 Nature America, Inc. All rights reserved.High-resolution mass spectrometry (MS) has become an important tool in the life sciences, contributing to the diagnosis and understanding of human diseases, elucidating biomolecular structural information and characterizing cellular signaling networks. However, the rapid growth in the volume and complexity of MS data makes transparent, accurate and reproducible analysis difficult. We present OpenMS 2.0 (http://www.openms.de), a robust, open-source, cross-platform software specifically designed for the flexible and reproducible analysis of high-throughput MS data. The extensible OpenMS software implements common mass spectrometric data processing tasks through a well-defined application programming interface in C++ and Python and through standardized open data formats. OpenMS additionally provides a set of 185 tools and ready-made workflows for common mass spectrometric data processing tasks, which enable users to perform complex quantitative mass spectrometric analyses with ease.",
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                        "authors": [
                            {
                                "name": "Rost H.L."
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                            {
                                "name": "Sachsenberg T."
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                            {
                                "name": "Aiche S."
                            },
                            {
                                "name": "Bielow C."
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                            {
                                "name": "Weisser H."
                            },
                            {
                                "name": "Aicheler F."
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                            {
                                "name": "Andreotti S."
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                            {
                                "name": "Ehrlich H.-C."
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                            {
                                "name": "Gutenbrunner P."
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                            {
                                "name": "Kenar E."
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                            {
                                "name": "Liang X."
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                            {
                                "name": "Nahnsen S."
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                            {
                                "name": "Nilse L."
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                            {
                                "name": "Pfeuffer J."
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                            {
                                "name": "Rosenberger G."
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                            {
                                "name": "Rurik M."
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                            {
                                "name": "Schmitt U."
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                            {
                                "name": "Veit J."
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                            {
                                "name": "Walzer M."
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                            {
                                "name": "Wojnar D."
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                            {
                                "name": "Wolski W.E."
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                            {
                                "name": "Schilling O."
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                            {
                                "name": "Choudhary J.S."
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                            {
                                "name": "Malmstrom L."
                            },
                            {
                                "name": "Aebersold R."
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                            {
                                "name": "Reinert K."
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                            {
                                "name": "Kohlbacher O."
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                                "name": "Bertsch A."
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                            {
                                "name": "Gropl C."
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                            {
                                "name": "Reinert K."
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                            {
                                "name": "Kohlbacher O."
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                        "title": "Protein embeddings improve phage-host interaction prediction",
                        "abstract": "With the growing interest in using phages to combat antimicrobial resistance, computational methods for predicting phage-host interactions have been explored to help shortlist candidate phages. Most existing models consider entire proteomes and rely on manual feature engineering, which poses difficulty in selecting the most informative sequence properties to serve as input to the model. In this paper, we framed phage-host interaction prediction as a multiclass classification problem that takes as input the embeddings of a phage’s receptor-binding proteins, which are known to be the key machinery for host recognition, and predicts the host genus. We explored different protein language models to automatically encode these protein sequences into dense embeddings without the need for additional alignment or structural information. We show that the use of embeddings of receptor-binding proteins presents improvements over handcrafted genomic and protein sequence features. The highest performance was obtained using the transformer-based protein language model ProtT5, resulting in a 3% to 4% increase in weighted F1 and recall scores across different prediction confidence thresholds, compared to using selected handcrafted sequence features.",
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