title: MEGA-V: detection of variant gene sets in patient cohorts.
abstract: : 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 a cohort of interest. By focusing on the mutations of several genes contributing to the same function rather than on those affecting a single gene, MEGA-V increases the power to detect statistically significant associations.
  
  
  
  MEGA-V is available at https://github.com/ciccalab/MEGA.
  
  
  
  francesca.ciccarelli@kcl.ac.uk.
  
  
  
  Supplementary data are available at Bioinformatics online.
authors.forename: Gennaro
authors.initials: G
authors.lastname: Gambardella
authors.forename: Matteo
authors.initials: M
authors.lastname: Cereda
authors.forename: Lorena
authors.initials: L
authors.lastname: Benedetti
authors.forename: Francesca D
authors.initials: FD
authors.lastname: Ciccarelli
mesh_terms: D015331:Cohort Studies; D003627:Data Interpretation, Statistical; D006801:Humans; D009154:Mutation; D012984:Software