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

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. He...

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Detalles Bibliográficos
Autores principales: McInnes, Gregory, Tanigawa, Yosuke, DeBoever, Chris, Lavertu, Adam, Olivieri, Julia Eve, Aguirre, Matthew, Rivas, Manuel A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612820/
https://www.ncbi.nlm.nih.gov/pubmed/30520965
http://dx.doi.org/10.1093/bioinformatics/bty999
Descripción
Sumario: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.