CNVCompass

CNVCompass is a web app (with optional desktop uploader) that helps genetics labs and researchers interpret copy-number variants (CNVs) from common callers by turning messy outputs into standardized, reviewable evidence packets. Users upload VCF/SEG/bed-like CNV results, and the app auto-annotates overlaps with curated dosage-sensitive genes/regions, known syndromic loci, and population frequency references, then generates a structured draft classification aligned to ACMG/ClinGen CNV guidance. It doesn’t pretend to replace a clinical geneticist; it speeds up the boring, error-prone parts: evidence gathering, consistent wording, and traceable citations. It also provides a “what would change this call?” checklist (e.g., confirmatory assay, breakpoint refinement, inheritance) and exports a report snippet for LIMS/EMR. The focus is pragmatic: fewer missed overlaps, faster sign-out, and better audit trails.