Documentation
Documentation for the Folklore clinical genetics platform, including clinically relevant rules, thresholds, data sources, workflows, and limitations. This documentation is intended for clinical geneticists, laboratory directors, accreditation auditors, and bioinformaticians.
For the full classification methodology with all criteria thresholds and combining rules, see the dedicated Methodology page.
Getting Started
Upload your first VCF file, set patient phenotype, and understand your results.
Variant Analysis
ACMG/AMP framework, 28 evidence criteria, combining rules, and ClinVar integration.
Family Analysis
Complete-trio joint genotyping, relationship QC, de novo candidates, compound-heterozygous phasing, and segregation limits.
Cohort Analysis
Build Studies, compare quality across samples, and interpret cohort-level variant, gene, and carrier evidence.
Structural Variants and CNVs
Structural and copy-number variant input, evidence, framework routing, interpretation, and limitations.
Mitochondrial DNA
mtDNA classification under MMDWG 2020, including heteroplasmy, haplogroups, predictors, and NUMT flags.
Computational Predictors
BayesDel, SpliceAI, SIFT, AlphaMissense, and conservation scores used in PP3/BP4.
Reference Databases
gnomAD, ClinVar, dbNSFP, HPO, ClinGen, and Ensembl VEP. Versions and update policy.
Phenotype Matching
HPO-based semantic similarity, clinical tier assignment, and score interpretation.
Screening
Multi-dimensional variant prioritization, tier system, and clinical screening modes.
Atlas Database
How patient-independent GRCh38 variants are normalized, classified, validated, and released as one governed Atlas generation.
Literature Corpus
How genetics publications are collected, reconciled, quality-controlled, and made available for public semantic search.
Literature Evidence
Local PubMed retrieval, case-aware relevance ranking, evidence labels, coverage, and clinical review boundaries.
AI Clinical Assistant
Natural language queries, clinical interpretation, and report generation.
Data and Privacy
EU infrastructure, GDPR compliance, data retention, and zero external API calls.
Folklore Connector
Connect AI clients to public variant evidence through the read-only Folklore MCP endpoint.
Limitations
What the platform cannot do. Honest documentation for clinical trust.
Glossary
Quick reference for genetics and platform terminology.
FAQ
Common questions from laboratory directors and clinical geneticists.
Changelog
Versioned history of all methodology and database changes.
Documentation Principles
This documentation explains what Folklore does, the evidence shown to users, and the boundaries that affect clinical interpretation. Clinically relevant thresholds and data provenance are documented where they support review and reproducibility; proprietary implementation details are not published. Every limitation is acknowledged. The platform is a clinical decision support tool -- the reviewing geneticist always has the final word.