The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

2018 Nucleic Acids Research 4,390 citations

Abstract

This FAIRsharing record describes: The Genome-Wide Association Studies (GWAS) Catalog provides a consistent, searchable, visualisable and freely available database of published SNP-trait associations, which can be easily integrated with other resources, and is accessed by scientists, clinicians and other users worldwide. Within the Catalog, all eligible GWA studies are identified by literature search and assessed by curators, who then extract the reported trait, significant SNP-trait associations, and sample metadata. The Catalog also publishes a GWAS diagram of SNP-trait associations, mapped onto the human genome by chromosomal location and displayed on the human karyotype. Since 2010, delivery and development of the Catalog has been a collaborative project between the EMBL-EBI and NHGRI. Since 2108 we have accepted statistics files for eligible publications, these can be submitted prior to publication. https://www.ebi.ac.uk/gwas/deposition

Keywords

Genome-wide association studySummary statisticsBiologyInterface (matter)ExomeComputational biologyComputer scienceData scienceInformation retrievalStatisticsGeneticsExome sequencingSingle-nucleotide polymorphism

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Publication Info

Year
2018
Type
article
Volume
47
Issue
D1
Pages
D1005-D1012
Citations
4390
Access
Closed

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Annalisa Buniello, Jacqueline MacArthur, María Cerezo et al. (2018). The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Research , 47 (D1) , D1005-D1012. https://doi.org/10.1093/nar/gky1120

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DOI
10.1093/nar/gky1120