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            "name": "Folklore",
            "description": "Deterministic, rule-based variant interpretation platform for clinical genetics laboratories. Automates ACMG/AMP 2015 classification using a Bayesian point-based framework (Tavtigian et al. 2018) with BayesDel ClinGen SVI-calibrated thresholds (Pejaver et al. 2022). Integrates 8 reference databases (gnomAD v4.1, ClinVar, dbNSFP 4.9c, SpliceAI, gnomAD Constraint, HPO, ClinGen, Ensembl VEP). Analyzes nuclear and mtDNA variants, structural and copy-number variants (SV/CNV), with trio/family and cohort analysis. Supports HPO-based phenotype matching, biomedical literature mining across 2M+ PubMed publications, and structured clinical report generation. AI assists in evidence synthesis but does not make classification decisions. EU-hosted on dedicated infrastructure in Helsinki, Finland (GDPR-compliant).",
            "homepage": "https://folklore.helena.bio",
            "biotoolsID": "HelixInsight",
            "biotoolsCURIE": "biotools:HelixInsight",
            "version": [
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                            "term": "Variant classification"
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                        {
                            "data": {
                                "uri": "http://edamontology.org/data_3498",
                                "term": "Sequence variations"
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                            "format": [
                                {
                                    "uri": "http://edamontology.org/format_3016",
                                    "term": "VCF"
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                            "data": {
                                "uri": "http://edamontology.org/data_0920",
                                "term": "Genotype/phenotype report"
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                            "data": {
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                                "term": "Disease report"
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                            "uri": "http://edamontology.org/operation_3197",
                            "term": "Genetic variation analysis"
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                    "note": null,
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                },
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                    "operation": [
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                            "uri": "http://edamontology.org/operation_0305",
                            "term": "Literature search"
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                    "output": [],
                    "note": null,
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                            "uri": "http://edamontology.org/operation_0362",
                            "term": "Genome annotation"
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                    "output": [],
                    "note": null,
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            "toolType": [
                "Web API",
                "Web application"
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                {
                    "uri": "http://edamontology.org/topic_3574",
                    "term": "Human genetics"
                },
                {
                    "uri": "http://edamontology.org/topic_0625",
                    "term": "Genotype and phenotype"
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                {
                    "uri": "http://edamontology.org/topic_3325",
                    "term": "Rare diseases"
                },
                {
                    "uri": "http://edamontology.org/topic_0199",
                    "term": "Genetic variation"
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                    "uri": "http://edamontology.org/topic_3063",
                    "term": "Medical informatics"
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                "Linux"
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            "language": [
                "Python"
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            "maturity": "Mature",
            "cost": "Commercial",
            "accessibility": "Restricted access",
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            "link": [
                {
                    "url": "https://github.com/helena-bioinformatics/folklore-mcp",
                    "type": [
                        "Repository"
                    ],
                    "note": "Public Apache-2.0 MCP protocol adapter source; the Folklore SaaS platform and clinical interpretation backend remain proprietary."
                },
                {
                    "url": "https://api.helena.bio/folklore/v1/mcp",
                    "type": [
                        "Service"
                    ],
                    "note": "Public remote endpoint for Folklore Clinical Variant Interpretation MCP version 1.2.2."
                },
                {
                    "url": "https://registry.modelcontextprotocol.io/v0.1/servers?search=io.github.helena-bioinformatics%2Ffolklore&version=latest",
                    "type": [
                        "Software catalogue"
                    ],
                    "note": "Official MCP Registry entry: io.github.helena-bioinformatics/folklore."
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                    "url": "https://folklore.helena.bio/integrations",
                    "type": [
                        "Other"
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                    "note": "Official Folklore integrations and MCP client connection page."
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                    "url": "https://api.helena.bio/folklore/v1/health",
                    "type": [
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                    "note": "Public health and discovery metadata endpoint for the Folklore MCP service."
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                    "type": "Source code",
                    "note": "Apache-2.0 standalone MCP protocol adapter. Excludes proprietary clinical interpretation logic, private data, credentials and operational infrastructure.",
                    "version": "1.2.2"
                }
            ],
            "documentation": [
                {
                    "url": "https://folklore.helena.bio/docs",
                    "type": [
                        "General"
                    ],
                    "note": "Complete production documentation covering every threshold, database version, and classification rule. Intended for clinical geneticists, laboratory directors, accreditation auditors, and bioinformaticians."
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                    "url": "https://folklore.helena.bio/how-it-works",
                    "type": [
                        "General"
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                    "note": "Seven-stage analysis pipeline (quality control, annotation, classification, phenotype matching, literature, screening, interpretation) transforming a raw VCF into a clinician-ready report, each stage producing traceable, auditable output."
                },
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                    "url": "https://folklore.helena.bio/methodology",
                    "type": [
                        "General"
                    ],
                    "note": "ACMG/AMP 2015 classification methodology (Richards et al. 2015) via Bayesian point-based system (Tavtigian et al. 2018), BayesDel ClinGen SVI-calibrated thresholds (Pejaver et al. 2022), and SpliceAI aligned to ClinGen SVI 2023 (Walker et al. 2023). Optional ClinGen VCEP overlay for ~50-60 genes. Strictly evidence-based, no ML determines pathogenicity."
                },
                {
                    "url": "https://folklore.helena.bio/methodology/mtdna",
                    "type": [
                        "General"
                    ],
                    "note": "Mitochondrial DNA variant classification under the ClinGen Mitochondrial Disease Working Group (MMDWG) 2020 specification (McCormick et al. 2020). Operates as an independent module from the nuclear ACMG/AMP pipeline; every variant carries an explicit framework provenance label. Strength tiers follow ClinGen mtDNA VCEP v1.0.0."
                },
                {
                    "url": "https://folklore.helena.bio/methodology/family-analysis",
                    "type": [
                        "General"
                    ],
                    "note": "Inheritance-aware evidence from trio (proband + both parents), duo, and proband-plus-sibling analyses. Implements ClinGen SVI 2018 de novo PS2/PM6 (PMID 29543229), Jarvik & Browning 2016 LOD segregation framework (PMID 27236918), and ClinGen SVI 2021 PP1 strength bands. Augments the existing ACMG/AMP classification without re-calling variants."
                },
                {
                    "url": "https://folklore.helena.bio/methodology/sv",
                    "type": [
                        "General"
                    ],
                    "note": "Structural and copy-number variant evaluation under the Riggs 2020 joint ACMG/ClinGen technical standard. Documents the point-based loss and gain metrics, dosage-sensitivity evidence, and five-tier classification, with reference data and documented limitations."
                },
                {
                    "url": "https://folklore.helena.bio/screening-methodology",
                    "type": [
                        "General"
                    ],
                    "note": "Prioritizes classified variants for clinical review. After ACMG classification determines what each variant is, screening determines which to review first based on patient-specific clinical relevance. Evaluates seven independent dimensions, applies clinical profile boosts, and produces a four-tier priority ranking with transparent, visible score components."
                },
                {
                    "url": "https://folklore.helena.bio/docs/folklore-connector",
                    "type": [
                        "API documentation"
                    ],
                    "note": "Canonical connector guide for Folklore Clinical Variant Interpretation MCP (io.github.helena-bioinformatics/folklore), version 1.2.2."
                },
                {
                    "url": "https://github.com/helena-bioinformatics/folklore-mcp#readme",
                    "type": [
                        "General"
                    ],
                    "note": "Public Apache-2.0 MCP protocol adapter README. The Folklore SaaS platform and clinical interpretation backend remain proprietary."
                },
                {
                    "url": "https://github.com/helena-bioinformatics/folklore-mcp/blob/main/CHANGELOG.md",
                    "type": [
                        "Release notes"
                    ],
                    "note": "Release history for the public Folklore MCP protocol adapter."
                }
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                {
                    "doi": "10.5281/zenodo.21105027",
                    "pmid": null,
                    "pmcid": null,
                    "type": [
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                    ],
                    "version": "1.0",
                    "note": "Methodological framework for real-world performance studies of the platform's variant classification, demonstrated on three internal validation cohorts.",
                    "metadata": null
                },
                {
                    "doi": "10.5281/zenodo.21189571",
                    "pmid": null,
                    "pmcid": null,
                    "type": [
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                    "version": "1.0",
                    "note": "A Deterministic Classification Core with an Agentic Interpretation Layer: An Architecture for Auditable, Human-Gated Clinical Variant Analysis",
                    "metadata": null
                },
                {
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                    "type": [
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                    "version": null,
                    "note": "Robustness and cross-cohort concordance of developmental regulons in endometrial carcinoma. Authors: Draga Toncheva, Vasil Sgurev and Vladimir Mitev.",
                    "metadata": null
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                    "doi": "10.5281/zenodo.21922952",
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                    "type": [
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                    "version": "1.2.2",
                    "note": "Archived public Apache-2.0 Folklore MCP adapter release. All-version DOI: 10.5281/zenodo.21922951.",
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                    "name": "Helena Bioinformatics",
                    "email": "contact@helena.bio",
                    "url": "https://helena.bio",
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            "name": "peptide-qc",
            "description": "peptide-qc analyzes a standard peptide sequence and returns residue composition, elemental formula, average and monoisotopic mass, approximate charge and pI, and Kyte-Doolittle hydropathy. It is a deterministic command-line tool and JavaScript library for research software tests and teaching. It does not identify unknown samples, certify purity, model unusual chemistry or provide clinical interpretation.",
            "homepage": "https://peptidomexico.com.mx/calculadora/",
            "biotoolsID": "peptide-qc",
            "biotoolsCURIE": "biotools:peptide-qc",
            "version": [
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                    "operation": [
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                            "uri": "http://edamontology.org/operation_2403",
                            "term": "Sequence analysis"
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                    ],
                    "input": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_2976",
                                "term": "Protein sequence"
                            },
                            "format": []
                        }
                    ],
                    "output": [
                        {
                            "data": {
                                "uri": "http://edamontology.org/data_2087",
                                "term": "Molecular property"
                            },
                            "format": []
                        }
                    ],
                    "note": "Outputs deterministic sequence composition and approximate physicochemical properties for standard residues.",
                    "cmd": "npx peptide-qc analyze --sequence ACDEFGHIK --ph 7 --json"
                }
            ],
            "toolType": [
                "Command-line tool",
                "Library"
            ],
            "topic": [
                {
                    "uri": "http://edamontology.org/topic_0121",
                    "term": "Proteomics"
                },
                {
                    "uri": "http://edamontology.org/topic_0080",
                    "term": "Sequence analysis"
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                    "url": "https://github.com/PeptidoMexico/peptidomexico-open-science/issues",
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                    "url": "https://www.npmjs.com/package/peptide-qc",
                    "type": "Software package",
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                    "version": "0.1.0"
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            "credit": [
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                    "name": "Péptido México",
                    "email": "hola@peptidomexico.com.mx",
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            "description": "Continuously updated functional re-annotation of the Mycobacterium tuberculosis complex gene set, anchored on the MTBC0 ancestral genome rather than on a single strain. Serves one record per gene combining Pfam domains, ESMFold structures with Foldseek search, protein language-model features, orthology, curated knowledge, protein association networks and intra-species selection inferred from 145209 sequenced genomes, with dated sources and a graded confidence level for every field. Intended as a successor to Mycobrowser, which is no longer maintained.",
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                            "term": "Genome annotation"
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                            "term": "Data retrieval"
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                    "note": "Query by H37Rv locus tag (Rv1908c) or gene name (katG); every field carries its provenance and confidence.",
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                            "term": "Variant effect prediction"
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                            "term": "Protein fold recognition"
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                    "note": "Structure-based leads for genes with no domain assignment, and population-scale selection signal per gene.",
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                "Database portal",
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                    "uri": "http://edamontology.org/topic_0621",
                    "term": "Model organisms"
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                    "uri": "http://edamontology.org/topic_0085",
                    "term": "Functional genomics"
                },
                {
                    "uri": "http://edamontology.org/topic_0091",
                    "term": "Bioinformatics"
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                    "uri": "http://edamontology.org/topic_3301",
                    "term": "Microbiology"
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                    "uri": "http://edamontology.org/topic_0736",
                    "term": "Protein folds and structural domains"
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            "cost": "Free of charge",
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            "link": [
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                    "type": [
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                    "note": "Source code repository, one script per evidence layer (MIT license)."
                }
            ],
            "download": [
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                    "url": "https://doi.org/10.5281/zenodo.20815246",
                    "type": "Downloads page",
                    "note": "Zenodo concept DOI: resolves to the latest archived release (per-gene records, consolidated layers, reproducibility bundle).",
                    "version": null
                },
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                    "url": "https://mtbc.gclab.fr/api/v1",
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                    "note": "Versioned read-only REST API over the served records.",
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            ],
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                    "name": "Christophe Guyeux",
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                    "note": "FEMTO-ST Institute (CNRS UMR 6174), Universite Marie et Louis Pasteur, Besancon, France."
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            "name": "Computase",
            "description": "Local Python sequence utilities for nucleotide composition, DNA and RNA reverse complements, NCBI genetic-code translation, six-frame candidate ORF enumeration, and IUPAC motif searches. Computase accepts raw nucleotide strings or one FASTA record and returns structured, bounded results with explicit scientific conventions.",
            "homepage": "https://github.com/madhusudan-kulkarni/computase",
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