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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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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
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author McInnes, Gregory
Tanigawa, Yosuke
DeBoever, Chris
Lavertu, Adam
Olivieri, Julia Eve
Aguirre, Matthew
Rivas, Manuel A
author_facet McInnes, Gregory
Tanigawa, Yosuke
DeBoever, Chris
Lavertu, Adam
Olivieri, Julia Eve
Aguirre, Matthew
Rivas, Manuel A
author_sort McInnes, Gregory
collection PubMed
description 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.
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spelling pubmed-66128202019-07-12 Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics McInnes, Gregory Tanigawa, Yosuke DeBoever, Chris Lavertu, Adam Olivieri, Julia Eve Aguirre, Matthew Rivas, Manuel A Bioinformatics Applications Notes 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. Oxford University Press 2019-07 2018-12-05 /pmc/articles/PMC6612820/ /pubmed/30520965 http://dx.doi.org/10.1093/bioinformatics/bty999 Text en © The Author(s) 2018. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Notes
McInnes, Gregory
Tanigawa, Yosuke
DeBoever, Chris
Lavertu, Adam
Olivieri, Julia Eve
Aguirre, Matthew
Rivas, Manuel A
Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
title Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
title_full Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
title_fullStr Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
title_full_unstemmed Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
title_short Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
title_sort global biobank engine: enabling genotype-phenotype browsing for biobank summary statistics
topic Applications Notes
url 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
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