RT Journal Article
SR Electronic
T1 FORGE: A tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 013045
DO 10.1101/013045
A1 Ian Dunham
A1 Eugene Kulesha
A1 Valentina Iotchkova
A1 Sandro Morganella
A1 Ewan Birney
YR 2014
UL http://biorxiv.org/content/early/2014/12/20/013045.abstract
AB Genome wide association studies provide an unbiased discovery mechanism for numerous human diseases. However, a frustration in the analysis of GWAS is that the majority of variants discovered do not directly alter protein-coding genes. We have developed a simple analysis approach that detects the tissue-specific regulatory component of a set of GWAS SNPs by identifying enrichment of overlap with DNase I hotspots from diverse tissue samples. Functional element Overlap analysis of the Results of GWAS Experiments (FORGE) is available as a web tool and as standalone software and provides tabular and graphical summaries of the enrichments. Conducting FORGE analysis on SNP sets for 260 phenotypes available from the GWAS catalogue reveals numerous overlap enrichments with tissue–specific components reflecting the known aetiology of the phenotypes as well as revealing other unforeseen tissue involvements that may lead to mechanistic insights for disease.