Differential gene set enrichment analysis in genome-wide mutational data

摘要

Embodiments include methods, systems, and computer program products for analyzing genomic data. Aspects include receiving genomic data for an organism, sample phenotypes, and a plurality of gene sets. Aspects include, for each of the gene sets, determining a set of genes G corresponding to genes in the gene set and a set of genes G′ corresponding to genes outside the gene set for the phenotypes R and R′. Aspects also include determining a set of mutated genes M and a set of non-mutated genes M′ for R and R′ and a mutation enrichment score. Aspects also include determining a set of differentiated genes D a set of non-differentiated genes D′ for R and R′. Aspects also include identifying an enriched gene set GE based at least in part upon the mutation enrichment score and the differentiation enrichment score.