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

Gregory McInnes¹, Yosuke Tanigawa^1,2, Chris DeBoever²

¹Biomedical Informatics Training Program, Stanford University, CA, USA.

Bioinformatics (Oxford, England)

|December 7, 2018

Summary

Global Biobank Engine (GBE) is a web tool for exploring genotype-phenotype links in biobanks like the UK Biobank. It aids researchers by sharing genetic association study results, overcoming data access challenges.

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Area of Science:

Genomics
Bioinformatics
Human Genetics

Background:

Large biobanks integrate phenotype and genotype data, driving genetic association studies.
Sharing biobank data presents challenges due to patient privacy and data volume.
Existing platforms struggle to efficiently disseminate vast genetic association findings.

Purpose of the Study:

To introduce Global Biobank Engine (GBE), a web-based platform for exploring genotype-phenotype relationships.
To facilitate the dissemination of summary statistics from biobank resources.
To enable researchers to access and analyze genetic association study results from large cohorts.

Main Methods:

Development of a web-based tool, Global Biobank Engine (GBE).
Integration of data from biobank cohorts, including the UK Biobank.
Implementation of functionalities for browsing genome-wide association studies (GWAS), phenome-wide association studies (PheWAS), gene-based tests, and genetic correlations.

Main Results:

GBE provides a user-friendly interface for exploring genotype-phenotype associations.
The platform supports diverse genetic analysis results, including GWAS and PheWAS.
GBE currently hosts data from the UK Biobank, with potential for expansion.

Conclusions:

GBE serves as a valuable resource for the scientific and clinical communities.
The tool facilitates the sharing and accessibility of biobank-derived genetic insights.
GBE aims to accelerate genetic discovery by simplifying access to summary statistics.