VariantTriage

VariantTriage is a web app (with optional desktop uploader) for clinical genetics labs to streamline variant interpretation and sign-out. It ingests VCFs and basic case metadata, auto-annotates variants, and generates a structured triage queue that highlights what actually needs human attention. The AI layer drafts ACMG evidence summaries (with citations), suggests likely classification, and flags conflicts (e.g., ClinVar disagreements, population frequency mismatches, phenotype mismatch). It also enforces lab-specific SOPs: required evidence fields, review steps, and audit trails. The product is not a “black box classifier”; it’s a workflow and documentation engine that reduces time spent copy-pasting into reports and chasing missing evidence. Realistically, you win by integrating into existing lab operations and saving measurable hours per case, not by claiming better science than incumbents.

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