Format

Send to

Choose Destination
Genome Biol. 2014;15(10):489.

MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis.

Author information

1
Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, USA.

Abstract

Many cancer genes form mutation hotspots that disrupt their functional domains or active sites, leading to gain- or loss-of-function. We propose a mutation set enrichment analysis (MSEA) implemented by two novel methods,MSEA-clust and MSEA-domain, to predict cancer genes based on mutation hotspot patterns. MSEA methods are evaluated by both simulated and real cancer data. We find approximately 51% of the eligible known cancer genes form detectable mutation hotspots. Application of MSEA in eight cancers reveals a total of 82 genes with mutation hotspots,including well-studied cancer genes, known cancer genes re-found in new cancer types, and novel cancer genes.

PMID:
25348067
PMCID:
PMC4226881
DOI:
10.1186/s13059-014-0489-9
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center