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Evaluates seven independent dimensions, applies clinical profile boosts, and produces a four-tier priority ranking with transparent, visible score components.</note></documentation><documentation><url>https://folklore.helena.bio/docs/folklore-connector</url><type>API documentation</type><note>Canonical connector guide for Folklore Clinical Variant Interpretation MCP (io.github.helena-bioinformatics/folklore), version 1.2.2.</note></documentation><documentation><url>https://github.com/helena-bioinformatics/folklore-mcp#readme</url><type>General</type><note>Public Apache-2.0 MCP protocol adapter README. 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Authors: Draga Toncheva, Vasil Sgurev and Vladimir Mitev.</note></publication><publication><doi>10.5281/zenodo.21922952</doi><type>Other</type><version>1.2.2</version><note>Archived public Apache-2.0 Folklore MCP adapter release. All-version DOI: 10.5281/zenodo.21922951.</note></publication><publication><doi>10.5281/zenodo.22093164</doi><type>Other</type><version>1.3.1</version><note>Archived public Apache-2.0 Folklore MCP adapter release with four read-only tools, including semantic Literature Corpus search. All-version DOI: 10.5281/zenodo.21922951.</note></publication><publication><doi>10.3389/fgene.2026.1925492</doi><type>Method</type><note>Mitev V. A methodological framework for real-world performance studies of clinical variant classification platforms at early organizational stages. Frontiers in Genetics 17:1925492, published 14 September 2026. 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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).</description><homepage>https://folklore.helena.bio</homepage><biotoolsID>HelixInsight</biotoolsID><biotoolsCURIE>biotools:HelixInsight</biotoolsCURIE><version>3.39.1</version><otherID><value>RRID:SCR_028669</value><type>rrid</type><version>3.39.1</version></otherID><toolType>Web API</toolType><toolType>Web application</toolType><topic><uri>http://edamontology.org/topic_3574</uri><term>Human genetics</term></topic><topic><uri>http://edamontology.org/topic_0625</uri><term>Genotype and phenotype</term></topic><topic><uri>http://edamontology.org/topic_3325</uri><term>Rare diseases</term></topic><topic><uri>http://edamontology.org/topic_0199</uri><term>Genetic variation</term></topic><topic><uri>http://edamontology.org/topic_3063</uri><term>Medical informatics</term></topic><operatingSystem>Linux</operatingSystem><language>Python</language><license>Proprietary</license><maturity>Mature</maturity><cost>Commercial</cost><accessibility>Restricted access</accessibility><function><operation><uri>http://edamontology.org/operation_3225</uri><term>Variant classification</term></operation><input><data><uri>http://edamontology.org/data_3498</uri><term>Sequence variations</term></data><format><uri>http://edamontology.org/format_3016</uri><term>VCF</term></format></input><output><data><uri>http://edamontology.org/data_2955</uri><term>Sequence report</term></data></output><output><data><uri>http://edamontology.org/data_0920</uri><term>Genotype/phenotype report</term></data></output><output><data><uri>http://edamontology.org/data_1622</uri><term>Disease report</term></data></output></function><function><operation><uri>http://edamontology.org/operation_3197</uri><term>Genetic variation analysis</term></operation></function><function><operation><uri>http://edamontology.org/operation_0305</uri><term>Literature search</term></operation></function><function><operation><uri>http://edamontology.org/operation_0362</uri><term>Genome annotation</term></operation></function><link><url>https://github.com/helena-bioinformatics/folklore-mcp</url><type>Repository</type><note>Public Apache-2.0 MCP protocol adapter source; the Folklore SaaS platform and clinical interpretation backend remain proprietary.</note></link><link><url>https://api.helena.bio/folklore/v1/mcp</url><type>Service</type><note>Public remote endpoint for Folklore Clinical Variant Interpretation MCP version 1.2.2.</note></link><link><url>https://registry.modelcontextprotocol.io/v0.1/servers?search=io.github.helena-bioinformatics%2Ffolklore&amp;version=latest</url><type>Software catalogue</type><note>Official MCP Registry entry: io.github.helena-bioinformatics/folklore.</note></link><link><url>https://folklore.helena.bio/integrations</url><type>Other</type><note>Official Folklore integrations and MCP client connection page.</note></link><link><url>https://api.helena.bio/folklore/v1/health</url><type>Technical monitoring</type><note>Public health and discovery metadata endpoint for the Folklore MCP service.</note></link><download><url>https://github.com/helena-bioinformatics/folklore-mcp</url><type>Source code</type><note>Apache-2.0 standalone MCP protocol adapter. Excludes proprietary clinical interpretation logic, private data, credentials and operational infrastructure.</note><version>1.2.2</version></download><documentation><url>https://folklore.helena.bio/docs</url><type>General</type><note>Complete production documentation covering every threshold, database version, and classification rule. Intended for clinical geneticists, laboratory directors, accreditation auditors, and bioinformaticians.</note></documentation><documentation><url>https://folklore.helena.bio/how-it-works</url><type>General</type><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.</note></documentation><documentation><url>https://folklore.helena.bio/methodology</url><type>General</type><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.</note></documentation><documentation><url>https://folklore.helena.bio/methodology/mtdna</url><type>General</type><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.</note></documentation><documentation><url>https://folklore.helena.bio/methodology/family-analysis</url><type>General</type><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 &amp; Browning 2016 LOD segregation framework (PMID 27236918), and ClinGen SVI 2021 PP1 strength bands. Augments the existing ACMG/AMP classification without re-calling variants.</note></documentation><documentation><url>https://folklore.helena.bio/methodology/sv</url><type>General</type><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.</note></documentation><documentation><url>https://folklore.helena.bio/screening-methodology</url><type>General</type><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. 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