Documentation
Complete documentation for the Helix Insight clinical genetics platform. Every threshold, database version, and classification rule used in production is documented here. 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.
Classification
ACMG/AMP framework, 28 evidence criteria, combining rules, and ClinVar integration.
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.
Literature Evidence
Local PubMed database, relevance scoring, and evidence strength mapping to ACMG.
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.
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 provides full transparency on what Helix Insight does and how it makes classification decisions. Every database version is specified, every threshold is documented with its exact value, and every limitation is acknowledged. The platform is a clinical decision support tool -- the reviewing geneticist always has the final word.