Detecting Cancer Driver Genes And Pathways

  • Published: Oct 19, 2017
  • Earliest Priority: Apr 15 2016
  • Family: 3
  • Cited Works: 41
  • Cited by: 0
  • Cites: 0
  • Additional Info: Cited Works Full text

Described herein are methods, systems, and apparatuses for detecting significantly mutated genes/pathways in a cancer cohort. A driver gene detection technique taking into account the heterogeneous mutational context in a cancer cohort is disclosed. A statistical model of a gene-specific mutation rate distribution (e.g., using an optimized gene specific mean estimation and/or a gene-specific dispersion estimation) is used to model a sample/gene-specific background mutation rate. The statistical model may then be used to detect gene/pathway enrichment and distinguish tumor suppressors and oncogenes based on the spatial distribution of non-silent mutations, loss-of-function mutations, and/or gain-of-function mutations.

Download PDF
Document Preview
Document History
  • Publication: Oct 19, 2017
  • Application: Apr 14, 2017
    WO US 2017/0027794 W
  • Priority: Apr 15, 2016
    US US 201662323535 P

Download Citation

Sign in to the Lens