MEGA-V: detection of variant gene sets in patient cohorts.
Bioinformatics
; 33(8): 1248-1249, 2017 04 15.
Article
em En
| MEDLINE
| ID: mdl-28003259
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Software
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article