Name
Title | ||
|---|---|---|
VSEAMS: a pipeline for variant set enrichment analysis using summary GWAS data identifies IKZF3, BATF and ESRRA as key transcription factors in type 1 diabetes. |
Abstract | ||
|---|---|---|
Motivation: Genome-wide association studies (GWAS) have identified many loci implicated in disease susceptibility. Integration of GWAS summary statistics (P-values) and functional genomic datasets should help to elucidate mechanisms. Results: We extended a non-parametric SNP set enrichment method to test for enrichment of GWAS signals in functionally defined loci to a situation where only GWAS P-values are available. The approach is implemented in VSEAMS, a freely available software pipeline. We use VSEAMS to identify enrichment of type 1 diabetes (T1D) GWAS associations near genes that are targets for the transcription factors IKZF3, BATF and ESRRA. IKZF3 lies in a known T1D susceptibility region, while BATF and ESRRA overlap other immune disease susceptibility regions, validating our approach and suggesting novel avenues of research for T1D. |
Year | DOI | Venue |
|---|---|---|
2014 | 10.1093/bioinformatics/btu571 | BIOINFORMATICS |
Field | DocType | Volume |
Data mining,IKZF3,Disease,Biology,Genome-wide association study,BATF,Genetic association,Bioinformatics,Locus (genetics),Genetics,SNP,Transcription factor | Journal | 30 |
Issue | ISSN | Citations |
23 | 1367-4803 | 3 |
PageRank | References | Authors |
0.53 | 2 | 3 |
Name | Order | Citations | PageRank |
|---|---|---|---|
| Oliver S. Burren | 1 | 26 | 5.22 |
| Hui Guo | 2 | 3 | 1.21 |
| Chris Wallace | 3 | 17 | 5.37 |