bio-clinical-databases-variant-prioritization

ACMG-Style Filtering

Goal: Score variants using ACMG-style evidence criteria for pathogenicity assessment.

Approach: Evaluate PM2 (population rarity) and PVS1 (loss-of-function) evidence, then compute a weighted priority score.

Multi-Database Prioritization

Goal: Prioritize variants using aggregated evidence from ClinVar, gnomAD, CADD, and REVEL in a single query.

Approach: Fetch annotations via myvariant.info, then compute a composite priority score weighting clinical, population, and computational evidence.

Inheritance-Based Filtering

Goal: Filter variants by expected inheritance pattern (autosomal dominant, recessive, or X-linked).

Approach: Select heterozygous ultra-rare variants for AD, or homozygous plus compound heterozygous candidates for AR.