VariantTriage

VariantTriage is a web app (with optional desktop companion) that helps small clinical labs and research groups rapidly prioritize genomic variants from VCFs with transparent, auditable rules. Users upload VCF + phenotype terms (HPO) and get a ranked shortlist with evidence cards: population frequency, predicted impact, ClinVar status, gene-disease links, inheritance models, and cohort frequency. It includes a rules engine for ACMG-style filters, plus an AI assistant that drafts a rationale summary and flags contradictions (e.g., benign frequency vs “pathogenic” claims). The app focuses on being fast, reproducible, and easy to validate—exporting every decision as a report and a machine-readable JSON for downstream LIMS. Realistically, it won’t replace enterprise platforms for large hospitals, but it can be the “good enough, affordable, auditable” layer for teams drowning in manual spreadsheets and ad-hoc scripts.