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 Publication2019
AuthorsMcInnes, G, Tanigawa, Y, DeBoever, C, Lavertu, A, Olivieri, JEve, Aguirre, M, Rivas, MA
JournalBioinformatics
Volume35
Issue14
Pagination2495-2497
Date Published2019 Jul 15
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
PubMed Central IDPMC6612820
Grant ListMC_QA137853 / / Medical Research Council / United Kingdom
U01 HG009080 / HG / NHGRI NIH HHS / United States