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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323933/ https://www.ncbi.nlm.nih.gov/pubmed/30445434 http://dx.doi.org/10.1093/nar/gky1120 |
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author | Buniello, Annalisa MacArthur, Jacqueline A L Cerezo, Maria Harris, Laura W Hayhurst, James Malangone, Cinzia McMahon, Aoife Morales, Joannella Mountjoy, Edward Sollis, Elliot Suveges, Daniel Vrousgou, Olga Whetzel, Patricia L Amode, Ridwan Guillen, Jose A Riat, Harpreet S Trevanion, Stephen J Hall, Peggy Junkins, Heather Flicek, Paul Burdett, Tony Hindorff, Lucia A Cunningham, Fiona Parkinson, Helen |
author_facet | Buniello, Annalisa MacArthur, Jacqueline A L Cerezo, Maria Harris, Laura W Hayhurst, James Malangone, Cinzia McMahon, Aoife Morales, Joannella Mountjoy, Edward Sollis, Elliot Suveges, Daniel Vrousgou, Olga Whetzel, Patricia L Amode, Ridwan Guillen, Jose A Riat, Harpreet S Trevanion, Stephen J Hall, Peggy Junkins, Heather Flicek, Paul Burdett, Tony Hindorff, Lucia A Cunningham, Fiona Parkinson, Helen |
author_sort | Buniello, Annalisa |
collection | PubMed |
description | The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 × 10(9) individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/. |
format | Online Article Text |
id | pubmed-6323933 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-63239332019-01-10 The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 Buniello, Annalisa MacArthur, Jacqueline A L Cerezo, Maria Harris, Laura W Hayhurst, James Malangone, Cinzia McMahon, Aoife Morales, Joannella Mountjoy, Edward Sollis, Elliot Suveges, Daniel Vrousgou, Olga Whetzel, Patricia L Amode, Ridwan Guillen, Jose A Riat, Harpreet S Trevanion, Stephen J Hall, Peggy Junkins, Heather Flicek, Paul Burdett, Tony Hindorff, Lucia A Cunningham, Fiona Parkinson, Helen Nucleic Acids Res Database Issue The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 × 10(9) individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/. Oxford University Press 2019-01-08 2018-11-16 /pmc/articles/PMC6323933/ /pubmed/30445434 http://dx.doi.org/10.1093/nar/gky1120 Text en © The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Database Issue Buniello, Annalisa MacArthur, Jacqueline A L Cerezo, Maria Harris, Laura W Hayhurst, James Malangone, Cinzia McMahon, Aoife Morales, Joannella Mountjoy, Edward Sollis, Elliot Suveges, Daniel Vrousgou, Olga Whetzel, Patricia L Amode, Ridwan Guillen, Jose A Riat, Harpreet S Trevanion, Stephen J Hall, Peggy Junkins, Heather Flicek, Paul Burdett, Tony Hindorff, Lucia A Cunningham, Fiona Parkinson, Helen The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 |
title | The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 |
title_full | The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 |
title_fullStr | The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 |
title_full_unstemmed | The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 |
title_short | The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 |
title_sort | nhgri-ebi gwas catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 |
topic | Database Issue |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323933/ https://www.ncbi.nlm.nih.gov/pubmed/30445434 http://dx.doi.org/10.1093/nar/gky1120 |
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