VariantTriage

VariantTriage is a web app (with optional desktop CLI) for clinical and research teams who drown in VCFs and inconsistent annotation pipelines. Upload a VCF (or point to S3), pick a reference build, and the app runs a reproducible annotation + prioritization workflow, then produces a defensible shortlist with evidence cards (population frequency, predicted impact, gene-disease links, phenotype match, and literature snippets). It’s an AI-assisted app: AI helps summarize evidence, draft ACMG-style rationale text, and highlight contradictions, but the underlying scoring remains transparent and configurable. The product focuses on auditability: every result is traceable to exact tool versions, databases, parameters, and timestamps. Export a clean PDF/JSON report for sign-out, plus a shareable link for collaborators. Realistically, this won’t replace established clinical interpretation suites; it wins by being lighter, cheaper, and easier to validate for smaller labs.