tooluniverse-structural-variant-analysis

SKILL.md

Systematic analysis of structural variants (deletions, duplications, inversions, translocations, complex rearrangements) for clinical genomics interpretation using ACMG-adapted criteria.

This skill provides: A systematic workflow integrating SV classification, gene content analysis, dosage sensitivity assessment, population frequencies, and ACMG-adapted criteria into clinically actionable interpretations.

SV Types: | Type | Abbreviation | Description | Molecular Effect |

Comprehensive structural variant (SV) analysis skill for clinical genomics. Classifies SVs (deletions, duplications, inversions, translocations), assesses pathogenicity using ACMG-adapted criteria, evaluates gene disruption and dosage sensitivity, and provides clinical interpretation with evidence grading. Use when analyzing CNVs, large deletions/duplications, chromosomal rearrangements, or any structural variants requiring clinical interpretation. Source: mims-harvard/tooluniverse.

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