Title | The variant call format provides efficient and robust storage of GWAS summary statistics. |
Publication Type | Journal Article |
Year of Publication | 2021 |
Authors | Lyon MS, Andrews SJ, Elsworth B, Gaunt TR, Hemani G, Marcora E |
Journal | Genome Biol |
Volume | 22 |
Issue | 1 |
Pagination | 32 |
Date Published | 2021 01 13 |
ISSN | 1474-760X |
Keywords | Databases, Genetic, Genome-Wide Association Study, Genomics, Humans, Software |
Abstract | 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 ). |
DOI | 10.1186/s13059-020-02248-0 |
Pubmed Link | https://www.ncbi.nlm.nih.gov/pubmed/33441155?dopt=Abstract |
page_expo | Internal |
Alternate Journal | Genome Biol |
PubMed ID | 33441155 |
PubMed Central ID | PMC7805039 |
Grant List | / DH_ / Department of Health / United Kingdom 208806/Z/17/Z / WT_ / Wellcome Trust / United Kingdom U01 AG052411 / AG / NIA NIH HHS / United States K99 AG070109 / AG / NIA NIH HHS / United States MC_UU_00011/4 / MRC_ / Medical Research Council / United Kingdom U01 AG058635 / AG / NIA NIH HHS / United States |
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