Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics.

TitleGlobal Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics.
Publication TypeJournal Article
Year of Publication2018
AuthorsMcInnes, G, Tanigawa, Y, DeBoever, C, Lavertu, A, Olivieri, JEve, Aguirre, M, Rivas, MA
JournalBioinformatics
Date Published2018 Dec 05
ISSN1367-4811
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.

DOI10.1093/bioinformatics/bty999
Alternate JournalBioinformatics
PubMed ID30520965
Grant ListMC_QA137853 / / Medical Research Council / United Kingdom
U01 HG009080 / HG / NHGRI NIH HHS / United States