Related Experiment Video
Updated: Nov 21, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
The variant call format provides efficient and robust storage of GWAS summary statistics
Matthew S Lyon1,2, Shea J Andrews3, Ben Elsworth4
1National Institute for Health Research (NIHR) Bristol Biomedical Research Centre (BRC), Bristol Medical School (Population Health Sciences), University of Bristol, Oakfield House, Bristol, BS8 2BN, UK. matt.lyon@bristol.ac.uk.
None:
GWAS summary statistics are fundamental for a variety of research applications yet no common storage format has been widely adopted. Existing tabular formats ambiguously or incompletely store information about genetic variants and associations, lack essential metadata and are typically not indexed yielding poor query performance and increasing the possibility of errors in data interpretation and post-GWAS analyses. To address these issues, we adapted the variant call format to store GWAS summary statistics (GWAS-VCF) and developed open-source tools to use this format in downstream analyses. We provide open access to over 10,000 complete GWAS summary datasets converted to this format ( https://gwas.mrcieu.ac.uk ).
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