interpretation▌
3 indexed skills · max 10 per page
tooluniverse-variant-interpretation
mims-harvard/tooluniverse · Productivity
Systematic variant interpretation using ToolUniverse - from raw variant calls to ACMG-classified clinical recommendations with structural impact analysis.
tooluniverse-gwas-snp-interpretation
mims-harvard/tooluniverse · Productivity
SNP interpretation: a GWAS hit is a REGION, not a single causal variant. The lead SNP may not be causal — it may be in LD with the causal variant. Always check LD structure and functional annotation before concluding a specific SNP is mechanistically responsible. Fine-mapping (SuSiE, FINEMAP credible sets) narrows the causal set but rarely identifies a single variant with certainty. L2G scores integrate eQTL, chromatin interaction, and distance data to predict the causal gene — a lead SNP mappin
tooluniverse-cancer-variant-interpretation
mims-harvard/tooluniverse · Productivity
Comprehensive clinical interpretation of somatic mutations in cancer. Transforms a gene + variant input into an actionable precision oncology report covering clinical evidence, therapeutic options, resistance mechanisms, clinical trials, and prognostic implications.