Tooluniverse Structural Variant Analysis

This handles clinical interpretation of structural variants like deletions, duplications, and inversions using ACMG-adapted criteria. It walks through a seven-phase workflow: normalizing coordinates, identifying affected genes, pulling ClinGen haploinsufficiency and triplosensitivity scores, checking gnomAD population frequencies, and scoring pathogenicity on a 0-10 scale before mapping to the five-tier clinical classification. The dosage sensitivity logic is explicit: a deletion is only pathogenic if it removes a haploinsufficient gene, a duplication matters when the gene is triplosensitive. It enforces a compute-first approach, running Python for scoring rather than describing what you'd do. Use this when you need structured evidence grading for CNV or chromosomal rearrangement reports.

Install to Claude Code

npx -y skills add mims-harvard/tooluniverse --skill tooluniverse-structural-variant-analysis --agent claude-code