Article
MEGA-V: detection of variant gene sets in patient cohorts.
Bioinformatics (Oxford, England) - 15 Apr 2017
Gambardella Gennaro, Cereda Matteo, Benedetti Lorena, Ciccarelli Francesca D
Abstract excerpt
Summary: : Detecting significant associations between genetic variants and disease may prove particularly challenging when the variants are rare in the population and/or act together with other variants to cause the disease. We have developed a statistical framework named Mutation Enrichment Gene set Analysis of Variants (MEGA-V) that specifically detects the enrichments of genetic alterations within a process in...
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