General Information
| Description | Detection of variant gene sets in patient cohorts |
| Homepage | https://github.com/ciccalab/MEGA |
Publications
MEGA-V: detection of variant gene sets in patient cohorts
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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