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                    "term": "Genetic variation"
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                    "uri": "http://edamontology.org/topic_2640",
                    "term": "Oncology"
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                        "title": "DecompTumor2Sig: Identification of mutational signatures active in individual tumors",
                        "abstract": "© 2019 The Author(s).Background: The somatic mutations found in a tumor have in most cases been caused by multiple mutational processes such as those related to extrinsic carcinogens like cigarette smoke, and those related to intrinsic processes like age-related spontaneous deamination of 5-methylcytosine. The effect of such mutational processes can be modeled by mutational signatures, of which two different conceptualizations exist: the model introduced by Alexandrov et al., Nature 500:415-421, 2013, and the model introduced by Shiraishi et al., PLoS Genetics 11(12):e1005657, 2015. The initial identification and definition of mutational signatures requires large sets of tumor samples. Results: Here, we present decompTumor2Sig, an easy to use R package that can decompose an individual tumor genome into a given set of Alexandrov-type or Shiraishi-type signatures, thus quantifying the contribution of the corresponding mutational processes to the somatic mutations identified in the tumor. Until now, such tools were available only for Alexandrov signatures. We demonstrate the correctness and usefulness of our approach with three test cases, using somatic mutations from 21 breast cancer genomes, from 435 tumor genomes of ten different tumor entities, and from simulated tumor genomes, respectively. Conclusions: The decompTumor2Sig package is freely available and has been accepted for inclusion in Bioconductor.",
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                                "name": "Kruger S."
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                        "title": "CliqueMS: A computational tool for annotating in-source metabolite ions from LC-MS untargeted metabolomics data based on a coelution similarity network",
                        "abstract": "The analysis of biological samples in untargeted metabolomic studies using LC-MS yields tens of thousands of ion signals. Annotating these features is of the utmost importance for answering questions as fundamental as, e.g. how many metabolites are there in a given sample.Results: Here, we introduce CliqueMS, a new algorithm for annotating in-source LC-MS1 data. CliqueMS is based on the similarity between coelution profiles and therefore, as opposed to most methods, allows for the annotation of a single spectrum. Furthermore, CliqueMS improves upon the state of the art in several dimensions: (i) it uses a more discriminatory feature similarity metric; (ii) it treats the similarities between features in a transparent way by means of a simple generativemodel; (iii) it uses a well-grounded maximum likelihood inference approach to group features; (iv) it uses empirical adduct frequencies to identify the parental mass and (v) it deals more flexibly with the identification of the parental mass by proposing and ranking alternative annotations. We validate our approach with simple mixtures of standards and with real complex biological samples. CliqueMS reduces the thousands of features typically obtained in complex samples to hundreds of metabolites, and it is able to correctly annotate more metabolites and adducts from a single spectrum than available tools.",
                        "date": "2019-10-15T00:00:00Z",
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                            {
                                "name": "Senan O."
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                            {
                                "name": "Aguilar-Mogas A."
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                            {
                                "name": "Navarro M."
                            },
                            {
                                "name": "Capellades J."
                            },
                            {
                                "name": "Noon L."
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                            {
                                "name": "Burks D."
                            },
                            {
                                "name": "Yanes O."
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                            {
                                "name": "Guimera R."
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                            {
                                "name": "Sales-Pardo M."
                            }
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                                "name": "Appe G."
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                            {
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                            {
                                "name": "Johnson W.E."
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            "documentation": [
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                    "metadata": {
                        "title": "COPASI - A COmplex PAthway SImulator",
                        "abstract": "Motivation: Simulation and modeling is becoming a standard approach to understand complex biochemical processes. Therefore, there is a big need for software tools that allow access to diverse simulation and modeling methods as well as support for the usage of these methods. Results: Here, we present COPASI, a platform-independent and user-friendly biochemical simulator that offers several unique features. We discuss numerical issues with these features; in particular, the criteria to switch between stochastic and deterministic simulation methods, hybrid deterministic-stochastic methods, and the importance of random number generator numerical resolution in stochastic simulation. © 2006 Oxford University Press.",
                        "date": "2006-12-15T00:00:00Z",
                        "citationCount": 2004,
                        "authors": [
                            {
                                "name": "Hoops S."
                            },
                            {
                                "name": "Gauges R."
                            },
                            {
                                "name": "Lee C."
                            },
                            {
                                "name": "Pahle J."
                            },
                            {
                                "name": "Simus N."
                            },
                            {
                                "name": "Singhal M."
                            },
                            {
                                "name": "Xu L."
                            },
                            {
                                "name": "Mendes P."
                            },
                            {
                                "name": "Kummer U."
                            }
                        ],
                        "journal": "Bioinformatics"
                    }
                },
                {
                    "doi": "10.1007/978-1-59745-525-1_2",
                    "pmid": "19399433",
                    "pmcid": null,
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "Computational modeling of biochemical networks using COPASI",
                        "abstract": "Computational modeling and simulation of biochemical networks is at the core of systems biology and this includes many types of analyses that can aid understanding of how these systems work. COPASI is a generic software package for modeling and simulation of biochemical networks which provides many of these analyses in convenient ways that do not require the user to program or to have deep knowledge of the numerical algorithms. Here we provide a description of how these modeling techniques can be applied to biochemical models using COPASI. The focus is both on practical aspects of software usage as well as on the utility of these analyses in aiding biological understanding. Practical examples are described for steady-state and time-course simulations, stoichiometric analyses, parameter scanning, sensitivity analysis (including metabolic control analysis), global optimization, parameter estimation, and stochastic simulation. The examples used are all published models that are available in the BioModels database in SBML format. © 2009 Humana Press.",
                        "date": "2009-12-01T00:00:00Z",
                        "citationCount": 171,
                        "authors": [
                            {
                                "name": "Mendes P."
                            },
                            {
                                "name": "Hoops S."
                            },
                            {
                                "name": "Sahle S."
                            },
                            {
                                "name": "Gauges R."
                            },
                            {
                                "name": "Dada J."
                            },
                            {
                                "name": "Kummer U."
                            }
                        ],
                        "journal": "Methods in Molecular Biology"
                    }
                },
                {
                    "doi": "10.1016/j.jbiotec.2017.06.1200",
                    "pmid": "28655634",
                    "pmcid": "PMC5623632",
                    "type": [],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "COPASI and its applications in biotechnology",
                        "abstract": "COPASI is software used for the creation, modification, simulation and computational analysis of kinetic models in various fields. It is open-source, available for all major platforms and provides a user-friendly graphical user interface, but is also controllable via the command line and scripting languages. These are likely reasons for its wide acceptance. We begin this review with a short introduction describing the general approaches and techniques used in computational modeling in the biosciences. Next we introduce the COPASI package, and its capabilities, before looking at typical applications of COPASI in biotechnology.",
                        "date": "2017-11-10T00:00:00Z",
                        "citationCount": 81,
                        "authors": [
                            {
                                "name": "Bergmann F.T."
                            },
                            {
                                "name": "Hoops S."
                            },
                            {
                                "name": "Klahn B."
                            },
                            {
                                "name": "Kummer U."
                            },
                            {
                                "name": "Mendes P."
                            },
                            {
                                "name": "Pahle J."
                            },
                            {
                                "name": "Sahle S."
                            }
                        ],
                        "journal": "Journal of Biotechnology"
                    }
                }
            ],
            "credit": [
                {
                    "name": null,
                    "email": null,
                    "url": "http://copasi.org/About/Team/",
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                },
                {
                    "name": "Frank T. Bergmann",
                    "email": "frank.bergmann@bioquant.uni-heidelberg.de",
                    "url": null,
                    "orcidid": "https://orcid.org/0000-0001-5553-4702",
                    "gridid": null,
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                        "Primary contact"
                    ],
                    "note": null
                }
            ],
            "owner": "frankbergmann",
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            "lastUpdate": "2025-07-07T11:17:37.638447Z",
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            "validated": 1,
            "homepage_status": 0,
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        },
        {
            "name": "purge_dups",
            "description": "Identifying and removing haplotypic duplication in primary genome assemblies | haplotypic duplication identification tool | scripts/pd_config.py: script to generate a configuration file used by run_purge_dups.py | purge haplotigs and overlaps in an assembly based on read depth | Given a primary assembly pri_asm and an alternative assembly hap_asm (optional, if you have one), follow the steps shown below to build your own purge_dups pipeline, steps with same number can be run simultaneously. Among all the steps, although step 4 is optional, we highly recommend our users to do so, because assemblers may produce overrepresented seqeuences. In such a case, The final step 4 can be applied to remove those seqeuences",
            "homepage": "https://github.com/dfguan/purge_dups",
            "biotoolsID": "purge_dups",
            "biotoolsCURIE": "biotools:purge_dups",
            "version": [
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            "function": [
                {
                    "operation": [
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                            "uri": "http://edamontology.org/operation_0525",
                            "term": "Genome assembly"
                        },
                        {
                            "uri": "http://edamontology.org/operation_3798",
                            "term": "Read binning"
                        },
                        {
                            "uri": "http://edamontology.org/operation_3216",
                            "term": "Scaffolding"
                        }
                    ],
                    "input": [
                        {
                            "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": null,
                    "cmd": null
                }
            ],
            "toolType": [],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_0196",
                    "term": "Sequence assembly"
                }
            ],
            "operatingSystem": [
                "Mac",
                "Linux"
            ],
            "language": [
                "Python",
                "C"
            ],
            "license": "MIT",
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            ],
            "maturity": null,
            "cost": "Free of charge",
            "accessibility": "Open access",
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            "link": [
                {
                    "url": "https://github.com/dfguan/purge_dups",
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                    "note": null
                },
                {
                    "url": "https://github.com/dfguan/purge_dups/issues",
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                    ],
                    "note": null
                }
            ],
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                    "type": [],
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                    "name": "Dengfeng Guan",
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        },
        {
            "name": "Compleasm",
            "description": "Compleasm: a faster and more accurate reimplementation of BUSCO.\nIt 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://github.com/huangnengCSU/compleasm",
            "biotoolsID": "compleasm",
            "biotoolsCURIE": "biotools:compleasm",
            "version": [
                "v.0.2.5"
            ],
            "otherID": [],
            "relation": [
                {
                    "biotoolsID": "busco",
                    "type": "isNewVersionOf"
                }
            ],
            "function": [
                {
                    "operation": [
                        {
                            "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_2546",
                                    "term": "FASTA-like"
                                }
                            ]
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_2955",
                                "term": "Sequence report"
                            },
                            "format": []
                        }
                    ],
                    "note": "Runs compleasm using the BUSCO set corresponding to the lineage given.",
                    "cmd": "compleasm run -l \"$lineage\" -a assembly.fa -o output_prefix"
                }
            ],
            "toolType": [
                "Command-line tool"
            ],
            "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"
                }
            ],
            "operatingSystem": [],
            "language": [
                "Python"
            ],
            "license": "Apache-2.0",
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            "cost": "Free of charge",
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            "link": [
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                        "Repository"
                    ],
                    "note": null
                },
                {
                    "url": "https://github.com/huangnengCSU/compleasm/issues",
                    "type": [
                        "Issue tracker"
                    ],
                    "note": null
                },
                {
                    "url": "https://busco.ezlab.org/list_of_lineages.html",
                    "type": [
                        "Other"
                    ],
                    "note": "List of accepted lineages (taxonomic groups with curated BUSCO sets)"
                }
            ],
            "download": [],
            "documentation": [
                {
                    "url": "https://github.com/huangnengCSU/compleasm/blob/0.2.6/README.md",
                    "type": [
                        "General"
                    ],
                    "note": null
                }
            ],
            "publication": [
                {
                    "doi": "10.1093/bioinformatics/btad595",
                    "pmid": null,
                    "pmcid": null,
                    "type": [],
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                    "metadata": {
                        "title": "compleasm: a faster and more accurate reimplementation of BUSCO",
                        "abstract": "Motivation: Evaluating the gene completeness is critical to measuring the quality of a genome assembly. An incomplete assembly can lead to errors in gene predictions, annotation, and other downstream analyses. Benchmarking Universal Single-Copy Orthologs (BUSCO) is a widely used tool for assessing the completeness of genome assembly by testing the presence of a set of single-copy orthologs conserved across a wide range of taxa. However, BUSCO is slow particularly for large genome assemblies. It is cumbersome to apply BUSCO to a large number of assemblies. Results: Here, we present compleasm, an efficient tool for assessing the completeness of genome assemblies. Compleasm utilizes the miniprot protein-to-genome aligner and the conserved orthologous genes from BUSCO. It is 14 times faster than BUSCO for human assemblies and reports a more accurate completeness of 99.6% than BUSCO's 95.7%, which is in close agreement with the annotation completeness of 99.5% for T2T-CHM13.",
                        "date": "2023-10-01T00:00:00Z",
                        "citationCount": 95,
                        "authors": [
                            {
                                "name": "Huang N."
                            },
                            {
                                "name": "Li H."
                            }
                        ],
                        "journal": "Bioinformatics"
                    }
                }
            ],
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                    "name": "Neng Huang",
                    "email": "neng@ds.dfci.harvard.edu",
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        {
            "name": "NanoPlot",
            "description": "NanoPlot is a tool with various visualizations of sequencing data in bam, cram, fastq, fasta or platform-specific TSV summaries, mainly intended for long-read sequencing from Oxford Nanopore Technologies and Pacific Biosciences",
            "homepage": "https://github.com/wdecoster/NanoPlot",
            "biotoolsID": "nanoplot",
            "biotoolsCURIE": "biotools:nanoplot",
            "version": [
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            ],
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            "relation": [
                {
                    "biotoolsID": "nanopack",
                    "type": "includedIn"
                }
            ],
            "function": [
                {
                    "operation": [
                        {
                            "uri": "http://edamontology.org/operation_2940",
                            "term": "Scatter plot plotting"
                        },
                        {
                            "uri": "http://edamontology.org/operation_2943",
                            "term": "Box-Whisker plot plotting"
                        }
                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_3494",
                                "term": "DNA sequence"
                            },
                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_2546",
                                    "term": "FASTA-like"
                                },
                                {
                                    "uri": "http://edamontology.org/format_1207",
                                    "term": "nucleotide"
                                }
                            ]
                        }
                    ],
                    "output": [],
                    "note": null,
                    "cmd": null
                }
            ],
            "toolType": [
                "Command-line tool",
                "Web application"
            ],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_0622",
                    "term": "Genomics"
                }
            ],
            "operatingSystem": [
                "Mac",
                "Linux",
                "Windows"
            ],
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                "Python"
            ],
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            ],
            "maturity": "Mature",
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            "accessibility": "Open access (with restrictions)",
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            "elixirNode": [],
            "elixirCommunity": [],
            "link": [
                {
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                    "type": [
                        "Repository"
                    ],
                    "note": "Issue tracker and most up to date software version"
                },
                {
                    "url": "http://nanoplot.bioinf.be/",
                    "type": [
                        "Service"
                    ],
                    "note": "Web service with more limited options compared to the command line tool"
                }
            ],
            "download": [
                {
                    "url": "https://anaconda.org/bioconda/nanoplot",
                    "type": "Command-line specification",
                    "note": null,
                    "version": null
                },
                {
                    "url": "https://pypi.org/project/NanoPlot/",
                    "type": "Command-line specification",
                    "note": null,
                    "version": null
                }
            ],
            "documentation": [
                {
                    "url": "https://github.com/wdecoster/NanoPlot",
                    "type": [
                        "Command-line options"
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                    "note": null
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            ],
            "publication": [
                {
                    "doi": "10.1093/bioinformatics/bty149",
                    "pmid": "29547981",
                    "pmcid": "PMC6061794",
                    "type": [
                        "Method"
                    ],
                    "version": null,
                    "note": null,
                    "metadata": {
                        "title": "NanoPack: Visualizing and processing long-read sequencing data",
                        "abstract": "Summary: Here we describe NanoPack, a set of tools developed for visualization and processing of long-read sequencing data from Oxford Nanopore Technologies and Pacific Biosciences. Availability and implementation: The NanoPack tools are written in Python3 and released under the GNU GPL3.0 License. The source code can be found at https://github.com/wdecoster/nanopack, together with links to separate scripts and their documentation. The scripts are compatible with Linux, Mac OS and the MS Windows 10 subsystem for Linux and are available as a graphical user interface, a web service at http://nanoplot.bioinf.be and command line tools.",
                        "date": "2018-08-01T00:00:00Z",
                        "citationCount": 1840,
                        "authors": [
                            {
                                "name": "De Coster W."
                            },
                            {
                                "name": "D'Hert S."
                            },
                            {
                                "name": "Schultz D.T."
                            },
                            {
                                "name": "Cruts M."
                            },
                            {
                                "name": "Van Broeckhoven C."
                            }
                        ],
                        "journal": "Bioinformatics"
                    }
                }
            ],
            "credit": [
                {
                    "name": "Wouter De Coster",
                    "email": null,
                    "url": "https://gigabaseorgigabyte.wordpress.com/",
                    "orcidid": "https://orcid.org/0000-0002-5248-8197",
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                }
            ],
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        },
        {
            "name": "NextDenovo",
            "description": "NextDenovo is a string graph-based de novo assembler for long reads (CLR, HiFi and ONT). It uses a \"correct-then-assemble\" strategy similar to canu (no correction step for PacBio Hifi reads), but requires significantly less computing resources and storages.",
            "homepage": "https://github.com/Nextomics/NextDenovo",
            "biotoolsID": "nextdenovo",
            "biotoolsCURIE": "biotools:nextdenovo",
            "version": [
                "v.2.5.2"
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            "otherID": [],
            "relation": [],
            "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"
                }
            ],
            "operatingSystem": [],
            "language": [
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                "C"
            ],
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            "elixirCommunity": [],
            "link": [
                {
                    "url": "https://github.com/Nextomics/NextDenovo/issues",
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                    ],
                    "note": null
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            ],
            "download": [
                {
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                    "type": "Source code",
                    "note": null,
                    "version": null
                }
            ],
            "documentation": [
                {
                    "url": "https://nextdenovo.readthedocs.io/en/latest/",
                    "type": [
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                    "note": null
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                {
                    "doi": "10.1101/2023.03.09.531669.",
                    "pmid": null,
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                    "name": "Nextomics",
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