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

Gregory Mcinnes,Manuel A Rivas,Chris Deboever,Matthew Aguirre,Adam Lavertu,Julia Eve Olivieri,Yosuke Tanigawa,John Hancock

doi:10.1093/bioinformatics/bty999

Gregory Mcinnes, Manuel A Rivas + Show 6 more

Open Access

https://doi.org/10.1093/bioinformatics/bty999

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Abstract

SummaryLarge 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 implementationGBE currently hosts data from the UK Biobank and can be found freely available at biobankengine.stanford.edu.

Highlights

Population-scale biobanks linking rich phenotype and molecular data are transforming the landscape of biomedical research
These tools limit the information shared to summary statistics which confers a decreased privacy risk for individuals included in the study (Erlich & Narayanan, 2014) and limits the computational resources required to interrogate the data
We present Global Biobank Engine (GBE), a web-based tool that presents summary statistics resulting from analysis of genotype-phenotype relationships derived from data in population-scale biobanks

Summary

Introduction

Population-scale biobanks linking rich phenotype and molecular data are transforming the landscape of biomedical research. Availability of these data enables researchers to perform analyses across a broad range of phenotypes at an unprecedented scale (Bycroft et al, 2017). The value of large sequencing and genotyping efforts lies in primary publications and in the dissemination of summary statistic data to the scientific community.

Results

Conclusion