SeqTrace

SeqTrace is a web app (with optional desktop uploader) that helps clinical genetics labs and small bioinformatics teams quickly audit NGS variant reports for internal consistency, evidence strength, and guideline alignment. Users upload a VCF plus a draft report (PDF/DOCX) and the app flags mismatches (gene/transcript discrepancies, HGVS formatting errors, zygosity inconsistencies, phenotype-gene mismatch, outdated ClinVar assertions, missing ACMG/AMP evidence codes). It generates a structured “QC memo” and a checklist for sign-out, reducing back-and-forth between analysts and directors. This is an AI + traditional rules engine: deterministic checks for formatting/logic, and an LLM layer to summarize evidence and highlight where the narrative overreaches the data. It’s realistic: it won’t “interpret genomes,” it will catch preventable mistakes and documentation gaps that cause delays, rework, and risk.