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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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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. |
format | Online Article Text |
id | pubmed-6612820 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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