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Found 6 Skills
Reason about germline and somatic variant classification using ACMG/AMP 2015 and AMP/ASCO/CAP frameworks. Use when the user asks to classify a variant, interpret a VCF annotation, resolve a VUS, apply ACMG criteria, weigh ClinVar evidence, evaluate gnomAD allele frequencies, interpret REVEL/CADD/SpliceAI scores, decide whether PVS1 applies, or assess gene-disease validity before reporting. Triggers include "ACMG", "variant classification", "pathogenic", "likely pathogenic", "VUS", "benign", "ClinVar", "gnomAD", "REVEL", "CADD", "SpliceAI", "PVS1", "loss of function", "nonsense variant", "missense interpretation", "splice variant", "filtering allele frequency", "ClinGen", "somatic variant tier".
Systematic ACMG/AMP variant classification using ToolUniverse tools. Given a genetic variant (HGVS, rsID, or gene+change), applies all 28 ACMG criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7) through automated database queries and computational predictions. Produces a final 5-tier classification (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with evidence summary. Use when asked to classify a variant, interpret a VUS, apply ACMG criteria, assess pathogenicity, or determine clinical significance of a germline variant.
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.
Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple databases (GWAS Catalog, Open Targets Genetics, ClinVar). Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance. Use when asked to interpret a SNP by rsID, find disease associations for a variant, assess clinical significance, or answer questions like "What diseases is rs429358 associated with?" or "Interpret rs7903146".
Systematic clinical variant interpretation from raw variant calls to ACMG-classified recommendations with structural impact analysis. Aggregates evidence from ClinVar, gnomAD, CIViC, UniProt, and PDB across ACMG criteria. Produces pathogenicity scores (0-100), clinical recommendations, and treatment implications. Use when interpreting genetic variants, classifying variants of uncertain significance (VUS), performing ACMG variant classification, or translating variant calls to clinical actionability.
Provide differential diagnosis for patients with suspected rare diseases based on phenotype and genetic data. Matches symptoms to HPO terms, identifies candidate diseases from Orphanet/OMIM, prioritizes genes for testing, interprets variants of uncertain significance. Use when clinician asks about rare disease diagnosis, unexplained phenotypes, or genetic testing interpretation.