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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.

SUBMITTER: Gambardella G

PROVIDER: S-EPMC5408849 | biostudies-other | 2017 Apr

REPOSITORIES: biostudies-other

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MEGA-V: detection of variant gene sets in patient cohorts.

Gambardella Gennaro G Cereda Matteo M Benedetti Lorena L Ciccarelli Francesca D FD

Bioinformatics (Oxford, England) 20170401 8

<h4>Summary</h4>: 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 contribu ...[more]

PMID: 28003259

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