Patient-oriented gene set analysis for cancer mutation data

Simina M. Boca, Kenneth W. Kinzler, Victor E. Velculescu, Bert Vogelstein, Giovanni Parmigiani

Research output: Contribution to journalArticlepeer-review


Recent research has revealed complex heterogeneous genomic landscapes in human cancers. However, mutations tend to occur within a core group of pathways and biological processes that can be grouped into gene sets. To better understand the significance of these pathways, we have developed an approach that initially scores each gene set at the patient rather than the gene level. In mutation analysis, these patient-oriented methods are more transparent, interpretable, and statistically powerful than traditional gene-oriented methods.

Original languageEnglish (US)
Article numberR112
JournalGenome biology
Issue number11
StatePublished - Nov 23 2010

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Cell Biology


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