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Elliot Sollis, Abayomi Mosaku, Ala Abid, Annalisa Buniello, María Cerezo, Laurent Gil, Tudor Groza, Osman Güneş, Peggy Hall, James D. Hayhurst and 20 more
The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry. The Catalog contains variant-trait associations and supporting metadata for >45 000 published GWAS across >5000 human traits, and >40 000 full P-value summary statistics datasets. Content is curated from publications or acquired via author submission of prepublication summary statistics through a new submission portal and validation tool. GWAS data volume has vastly increased in recent years. We have updated our software to meet this scaling challenge and to enable rapid release of submitted summary statistics. The scope of the repository has expanded to include additional data types of high interest to the community, including sequencing-based GWAS, gene-based analyses and copy number variation analyses. Community outreach has increased the number of shared datasets from under-represented traits, e.g. cancer, and we continue to contribute to awareness of the lack of population diversity in GWAS. Interoperability of the Catalog has been enhanced through links to other resources including the Polygenic Score Catalog and the International Mouse Phenotyping Consortium, refinements to GWAS trait annotation, and the development of a standard format for GWAS data.
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Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Güneş, O., Hall, P., Hayhurst, J. D., Ibrahim, A., Ji, Y., John, S., Lewis, E., MacArthur, J. A. L., McMahon, A., Osumi-Sutherland, D., Panoutsopoulou, K., Pendlington, Z. M., … Harris, L. W. (2022). The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource. Nucleic Acids Research, 51(D1), D977–D985. https://doi.org/10.1093/nar/gkac1010
Sollis, Elliot, et al. "The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource." Nucleic Acids Research, vol. 51, no. D1, 2022, pp. D977–D985, https://doi.org/10.1093/nar/gkac1010.
Sollis, Elliot, Abayomi Mosaku, Ala Abid, Annalisa Buniello, María Cerezo, Laurent Gil, Tudor Groza, et al. "The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource." Nucleic Acids Research 51, no. D1 (2022): D977–D985. https://doi.org/10.1093/nar/gkac1010.
Sollis E., Mosaku A., Abid A. [и др.] The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource // Nucleic Acids Research. — 2022. — Vol. 51, № D1. — P. D977–D985. — URL: https://doi.org/10.1093/nar/gkac1010
@article{sollis2022nhgriebi,
title = {{The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource}},
author = {Elliot Sollis and Abayomi Mosaku and Ala Abid and Annalisa Buniello and María Cerezo and Laurent Gil and Tudor Groza and Osman Güneş and Peggy Hall and James D. Hayhurst and Arwa Ibrahim and Yue Ji and Sajo John and Elizabeth Lewis and Jacqueline A. L. MacArthur and Aoife McMahon and David Osumi-Sutherland and Kalliope Panoutsopoulou and Zoë May Pendlington and Santhi Ramachandran and Ray Stefancsik and Jonathan Stewart and Patricia L. Whetzel and Robert Wilson and Lucia A. Hindorff and Fiona M Cunningham and Samuel A. Lambert and Michael Inouye and Helen Elizabeth Parkinson and Laura Wiseman Harris},
journal = {Nucleic Acids Research},
year = {2022},
volume = {51},
number = {D1},
pages = {D977--D985},
doi = {10.1093/nar/gkac1010},
url = {https://doi.org/10.1093/nar/gkac1010}
}TY - JOUR AU - Sollis, Elliot AU - Mosaku, Abayomi AU - Abid, Ala AU - Buniello, Annalisa AU - Cerezo, María AU - Gil, Laurent AU - Groza, Tudor AU - Güneş, Osman AU - Hall, Peggy AU - Hayhurst, James D. AU - Ibrahim, Arwa AU - Ji, Yue AU - John, Sajo AU - Lewis, Elizabeth AU - MacArthur, Jacqueline A. L. AU - McMahon, Aoife AU - Osumi-Sutherland, David AU - Panoutsopoulou, Kalliope AU - Pendlington, Zoë May AU - Ramachandran, Santhi AU - Stefancsik, Ray AU - Stewart, Jonathan AU - Whetzel, Patricia L. AU - Wilson, Robert AU - Hindorff, Lucia A. AU - Cunningham, Fiona M AU - Lambert, Samuel A. AU - Inouye, Michael AU - Parkinson, Helen Elizabeth AU - Harris, Laura Wiseman TI - The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource JO - Nucleic Acids Research VL - 51 IS - D1 SP - D977 EP - D985 PY - 2022 DA - 2022/10/20 DO - 10.1093/nar/gkac1010 UR - https://doi.org/10.1093/nar/gkac1010 ER -
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