Genome MuSiC

Overview

Genome MuSiC (Mutation Significance in Cancer) is a computational suite for identifying significantly mutated genes in cancer genome sequencing studies. It accounts for gene length, background mutation rate, and mutation context to distinguish driver from passenger mutations, outputting false-discovery-rate-controlled significance scores.

Used by

  • Applied in ICGC PedBrain pilocytic astrocytoma WGS study (96 cases) for significantly mutated gene analysis (max-FDR 0.05); identified only BRAF, FGFR1, KRAS, and NF1 as significantly mutated genes, confirming pilocytic astrocytoma as a single-pathway (MAPK) disease PMID:23817572
  • Applied to Ewing sarcoma WGS data; genome-MuSiC SMG test identified STAG2, TP53, and EZH2 as the only significantly mutated genes among 112 tumors PMID:25223734
  • Used for significantly mutated gene identification in 29 AA CRC discovery exomes, contributing to the nomination of 20 significantly mutated genes including EPHA6 and FLCN as African American-specific CRC drivers PMID:25583493
  • MuSiC (Genome MuSiC) used alongside MutSig and drGAP for driver gene detection (FDR<0.1) in 216 metastatic breast cancer exomes PMID:28027327.
  • GenomeMuSiC used alongside MutSigCV and IntOGen for significantly mutated gene detection across 491 medulloblastoma cases, enabling confident driver assignment to 76% of Group 3 and 82% of Group 4 tumors PMID:28726821
  • MuSiC (Genome MuSiC) used for significantly mutated gene analysis in 206 TCGA sarcomas; identified only 3 SMGs (TP53, ATRX, RB1) consistent with the low mutation burden (mean 1.06/Mb) of these tumors PMID:29100075
  • Applied alongside MutSig to identify 47 significantly recurrently mutated genes across 1,027 MSS COADREAD tumors prospectively sequenced by MSK-IMPACT PMID:29316426
  • MuSiC2 (P < 1e-7) applied to KIRC PASS variants from the MC3 open-access MAF; identified 10 SMGs; unfiltered MAF inflated the list to 321 SMGs PMID:29596782

Notes

  • Corpus-grown slug; not found in cBioPortal canonical gene panel ontology.
  • Predecessor to tools such as MutSig2CV; developed at the Genome Institute (Washington University).

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:25223734

This page was processed by crosslinker on 2026-05-14. - PMID:25583493

This page was processed by crosslinker on 2026-05-14. - PMID:28027327

This page was processed by wiki-cli on 2026-05-14. - PMID:28726821

This page was processed by entity-page-writer on 2026-05-15. - PMID:29100075

This page was processed by entity-page-writer on 2026-05-15. - PMID:29316426

This page was processed by wiki-cli on 2026-05-15. - PMID:29596782

This page was processed by wiki-cli on 2026-05-15.