| Literature DB >> 33441155 |
Matthew S Lyon1,2, Shea J Andrews3, Ben Elsworth4, Tom R Gaunt5,4, Gibran Hemani4, Edoardo Marcora3.
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 ).Entities:
Keywords: GWAS; Storage format; Summary statistics; VCF
Mesh:
Year: 2021 PMID: 33441155 PMCID: PMC7805039 DOI: 10.1186/s13059-020-02248-0
Source DB: PubMed Journal: Genome Biol ISSN: 1474-7596 Impact factor: 13.583