VariantTriage

VariantTriage is a web app (with optional desktop uploader) that helps small-to-mid clinical genetics labs and hospital teams triage VCF variants into a short, review-ready list. It ingests VCF + phenotype terms (HPO), pulls evidence from public sources, and produces an auditable, ACMG-oriented evidence packet per variant: population frequency, predicted impact, ClinVar status, gene-disease links, and literature snippets. An AI layer drafts a structured summary and highlights conflicts, but the app never “auto-classifies” without human sign-off. The goal is to cut the time wasted on manual tab-hopping and inconsistent note-taking, not to replace the geneticist. It includes case templates, standardized evidence checklists, and exportable reports for sign-out meetings. Realistically, it lives or dies on trust, traceability, and integration with existing lab workflows.