Submitted by ja607 on
Title | Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | McInnes, G, Tanigawa, Y, DeBoever, C, Lavertu, A, Olivieri, JEve, Aguirre, M, Rivas, MA |
Journal | Bioinformatics |
Volume | 35 |
Issue | 14 |
Pagination | 2495-2497 |
Date Published | 2019 Jul 15 |
ISSN | 1367-4811 |
Abstract | SUMMARY: Large biobanks linking phenotype to genotype have led to an explosion of genetic association studies across a wide range of phenotypes. Sharing the knowledge generated by these resources with the scientific community remains a challenge due to patient privacy and the vast amount of data. Here, we present Global Biobank Engine (GBE), a web-based tool that enables exploration of the relationship between genotype and phenotype in biobank cohorts, such as the UK Biobank. GBE supports browsing for results from genome-wide association studies, phenome-wide association studies, gene-based tests and genetic correlation between phenotypes. We envision GBE as a platform that facilitates the dissemination of summary statistics from biobanks to the scientific and clinical communities. AVAILABILITY AND IMPLEMENTATION: GBE currently hosts data from the UK Biobank and can be found freely available at biobankengine.stanford.edu. |
DOI | 10.1093/bioinformatics/bty999 |
Alternate Journal | Bioinformatics |
PubMed ID | 30520965 |
PubMed Central ID | PMC6612820 |
Grant List | MC_QA137853 / / Medical Research Council / United Kingdom U01 HG009080 / HG / NHGRI NIH HHS / United States |