Cargando…
GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies
The GWAS Central resource gathers and curates extensive summary-level genome-wide association study (GWAS) data and puts a range of user-friendly but powerful website tools for the comparison and visualisation of GWAS data at the fingertips of researchers. Through our continued efforts to harmonise...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825503/ https://www.ncbi.nlm.nih.gov/pubmed/36350644 http://dx.doi.org/10.1093/nar/gkac1017 |
_version_ | 1784866646438969344 |
---|---|
author | Beck, Tim Rowlands, Thomas Shorter, Tom Brookes, Anthony J |
author_facet | Beck, Tim Rowlands, Thomas Shorter, Tom Brookes, Anthony J |
author_sort | Beck, Tim |
collection | PubMed |
description | The GWAS Central resource gathers and curates extensive summary-level genome-wide association study (GWAS) data and puts a range of user-friendly but powerful website tools for the comparison and visualisation of GWAS data at the fingertips of researchers. Through our continued efforts to harmonise and import data received from GWAS authors and consortia, and data sets actively collected from public sources, the database now contains over 72.5 million P-values for over 5000 studies testing over 7.4 million unique genetic markers investigating over 1700 unique phenotypes. Here, we describe an update to integrate this extensive data collection with mouse disease model data to support insights into the functional impact of human genetic variation. GWAS Central has expanded to include mouse gene–phenotype associations observed during mouse gene knockout screens. To allow similar cross-species phenotypes to be compared, terms from mammalian and human phenotype ontologies have been mapped. New interactive interfaces to find, correlate and view human and mouse genotype–phenotype associations are included in the website toolkit. Additionally, the integrated browser for interrogating multiple association data sets has been updated and a GA4GH Beacon API endpoint has been added for discovering variants tested in GWAS. The GWAS Central resource is accessible at https://www.gwascentral.org/. |
format | Online Article Text |
id | pubmed-9825503 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-98255032023-01-10 GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies Beck, Tim Rowlands, Thomas Shorter, Tom Brookes, Anthony J Nucleic Acids Res Database Issue The GWAS Central resource gathers and curates extensive summary-level genome-wide association study (GWAS) data and puts a range of user-friendly but powerful website tools for the comparison and visualisation of GWAS data at the fingertips of researchers. Through our continued efforts to harmonise and import data received from GWAS authors and consortia, and data sets actively collected from public sources, the database now contains over 72.5 million P-values for over 5000 studies testing over 7.4 million unique genetic markers investigating over 1700 unique phenotypes. Here, we describe an update to integrate this extensive data collection with mouse disease model data to support insights into the functional impact of human genetic variation. GWAS Central has expanded to include mouse gene–phenotype associations observed during mouse gene knockout screens. To allow similar cross-species phenotypes to be compared, terms from mammalian and human phenotype ontologies have been mapped. New interactive interfaces to find, correlate and view human and mouse genotype–phenotype associations are included in the website toolkit. Additionally, the integrated browser for interrogating multiple association data sets has been updated and a GA4GH Beacon API endpoint has been added for discovering variants tested in GWAS. The GWAS Central resource is accessible at https://www.gwascentral.org/. Oxford University Press 2022-11-09 /pmc/articles/PMC9825503/ /pubmed/36350644 http://dx.doi.org/10.1093/nar/gkac1017 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of Nucleic Acids Research. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://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 Beck, Tim Rowlands, Thomas Shorter, Tom Brookes, Anthony J GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies |
title | GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies |
title_full | GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies |
title_fullStr | GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies |
title_full_unstemmed | GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies |
title_short | GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies |
title_sort | gwas central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies |
topic | Database Issue |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825503/ https://www.ncbi.nlm.nih.gov/pubmed/36350644 http://dx.doi.org/10.1093/nar/gkac1017 |
work_keys_str_mv | AT becktim gwascentralanexpandingresourceforfindingandvisualisinggenotypeandphenotypedatafromgenomewideassociationstudies AT rowlandsthomas gwascentralanexpandingresourceforfindingandvisualisinggenotypeandphenotypedatafromgenomewideassociationstudies AT shortertom gwascentralanexpandingresourceforfindingandvisualisinggenotypeandphenotypedatafromgenomewideassociationstudies AT brookesanthonyj gwascentralanexpandingresourceforfindingandvisualisinggenotypeandphenotypedatafromgenomewideassociationstudies |