Detecting Cancer Driver Genes And Pathways


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.

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

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