King's College London

Research portal

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

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)1248-1249
Number of pages2
JournalBIOINFORMATICS
Volume33
Issue number8
Early online date21 Dec 2016
DOIs
StatePublished - 2017

Documents

King's Authors

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. Supplementary data are available online.

AVAILABILITY: MEGA-V is available at https://github.com/ciccalab/MEGA CONTACT: francesca.ciccarelli@kcl.ac.uk.

Download statistics

No data available

View graph of relations

© 2015 King's College London | Strand | London WC2R 2LS | England | United Kingdom | Tel +44 (0)20 7836 5454