Pulse Brain · Growing Health Evidence Index
Peer-reviewed

The MRC IEU OpenGWAS data infrastructure

Ben Elsworth, Matthew Lyon, Tessa Alexander, Yi Liu, Peter Matthews, Jon Hallett, P. J. Bates, Tom Palmer, Valeriia Haberland, George Davey Smith, Jie Zheng, Philip Haycock, Tom R. Gaunt, Gibran Hemani

bioRxiv (Cold Spring Harbor Laboratory) · 2020

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Summary

Abstract Data generated by genome-wide association studies (GWAS) are growing fast with the linkage of biobank samples to health records, and expanding capture of high-dimensional molecular phenotypes. However the utility of these efforts can only be fully realised if their complete results are collected from their heterogeneous sources and formats, harmonised and made programmatically accessible. Here we present the OpenGWAS database, an open source, open access, scalable and high-performance cloud-based data infrastructure that imports and publishes complete GWAS summary datasets and metadata for the scientific community. Our import pipeline harmonises these datasets against dbSNP and the human genome reference sequence, generates summary reports and standardises the format of results an

Source type
Peer-reviewed study
DOI
10.1101/2020.08.10.244293
Catalogue ID
SNmohbayku-lfd6jm
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