{"entity":{"id":"mutsig","kind":"term","name":"MutSig (significantly mutated gene detection)","aka":["MutSig","MutSigCV","MutSig2CV","significantly mutated genes","SMG analysis"],"tldr":"MutSig asks which genes are mutated more often than the background mutation rate would predict, separating likely drivers from long or late-replicating genes that collect passengers.","summary":"Lawrence and colleagues showed that mutation rates vary enormously between patients and across the genome (with expression level and replication timing) and that ignoring this heterogeneity produces spurious driver genes; MutSigCV corrects for it using patient-specific rates and gene covariates. It became the standard driver test in TCGA marker papers alongside GISTIC for copy number. Like GISTIC it is distributed under a Broad research licence rather than an open repository.","asOf":"2026-09-24","links":[{"label":"Lawrence et al., Mutational heterogeneity in cancer and the search for new cancer-associated genes (Nature 2013)","url":"https://doi.org/10.1038/nature12213"}],"tags":["cansim-terms"],"related":["intogen","cancer-ai-vocabulary"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["driver-mutation","variant-calling","gistic"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Listed in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme; CanSim page path /terms/mutsig."],"provenance":{"editedBy":"OnCo CanSim terms wave (Wikipedia summaries, standards and project pages, GDC and FDA pages, Europe PMC)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"category":"Genomics & genetics"},"route":"/terms/mutsig/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"term":[{"id":"cancer-ai-vocabulary","kind":"term","name":"Cancer AI vocabulary (CanSim terms map)","route":"/terms/cancer-ai-vocabulary/"},{"id":"driver-mutation","kind":"term","name":"Driver mutation","route":"/terms/driver-mutation/"},{"id":"gistic","kind":"term","name":"GISTIC (copy number driver detection)","route":"/terms/gistic/"},{"id":"variant-calling","kind":"term","name":"Variant calling","route":"/terms/variant-calling/"}]}}