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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
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/.
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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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