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

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Abstract

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 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.

Availability and Implementation:

MEGA-V is available at https://github.com/ciccalab/MEGA

Contact:

francesca.ciccarelli@kcl.ac.uk

Supplementary information:

Supplementary data are available at Bioinformatics online.

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