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The European Variation Archive: a FAIR resource of genomic variation for all species

The European Variation Archive (EVA; https://www.ebi.ac.uk/eva/) is a resource for sharing all types of genetic variation data (SNPs, indels, and structural variants) for all species. The EVA was created in 2014 to provide FAIR access to genetic variation data and has since grown to be a primary res...

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Autores principales: Cezard, Timothe, Cunningham, Fiona, Hunt, Sarah E, Koylass, Baron, Kumar, Nitin, Saunders, Gary, Shen, April, Silva, Andres F, Tsukanov, Kirill, Venkataraman, Sundararaman, Flicek, Paul, Parkinson, Helen, Keane, Thomas M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728205/
https://www.ncbi.nlm.nih.gov/pubmed/34718739
http://dx.doi.org/10.1093/nar/gkab960
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author Cezard, Timothe
Cunningham, Fiona
Hunt, Sarah E
Koylass, Baron
Kumar, Nitin
Saunders, Gary
Shen, April
Silva, Andres F
Tsukanov, Kirill
Venkataraman, Sundararaman
Flicek, Paul
Parkinson, Helen
Keane, Thomas M
author_facet Cezard, Timothe
Cunningham, Fiona
Hunt, Sarah E
Koylass, Baron
Kumar, Nitin
Saunders, Gary
Shen, April
Silva, Andres F
Tsukanov, Kirill
Venkataraman, Sundararaman
Flicek, Paul
Parkinson, Helen
Keane, Thomas M
author_sort Cezard, Timothe
collection PubMed
description The European Variation Archive (EVA; https://www.ebi.ac.uk/eva/) is a resource for sharing all types of genetic variation data (SNPs, indels, and structural variants) for all species. The EVA was created in 2014 to provide FAIR access to genetic variation data and has since grown to be a primary resource for genomic variants hosting >3 billion records. The EVA and dbSNP have established a compatible global system to assign unique identifiers to all submitted genetic variants. The EVA is active within the Global Alliance of Genomics and Health (GA4GH), maintaining, contributing and implementing standards such as VCF, Refget and Variant Representation Specification (VRS). In this article, we describe the submission and permanent accessioning services along with the different ways the data can be retrieved by the scientific community.
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spelling pubmed-87282052022-01-05 The European Variation Archive: a FAIR resource of genomic variation for all species Cezard, Timothe Cunningham, Fiona Hunt, Sarah E Koylass, Baron Kumar, Nitin Saunders, Gary Shen, April Silva, Andres F Tsukanov, Kirill Venkataraman, Sundararaman Flicek, Paul Parkinson, Helen Keane, Thomas M Nucleic Acids Res Database Issue The European Variation Archive (EVA; https://www.ebi.ac.uk/eva/) is a resource for sharing all types of genetic variation data (SNPs, indels, and structural variants) for all species. The EVA was created in 2014 to provide FAIR access to genetic variation data and has since grown to be a primary resource for genomic variants hosting >3 billion records. The EVA and dbSNP have established a compatible global system to assign unique identifiers to all submitted genetic variants. The EVA is active within the Global Alliance of Genomics and Health (GA4GH), maintaining, contributing and implementing standards such as VCF, Refget and Variant Representation Specification (VRS). In this article, we describe the submission and permanent accessioning services along with the different ways the data can be retrieved by the scientific community. Oxford University Press 2021-10-28 /pmc/articles/PMC8728205/ /pubmed/34718739 http://dx.doi.org/10.1093/nar/gkab960 Text en © The Author(s) 2021. 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
Cezard, Timothe
Cunningham, Fiona
Hunt, Sarah E
Koylass, Baron
Kumar, Nitin
Saunders, Gary
Shen, April
Silva, Andres F
Tsukanov, Kirill
Venkataraman, Sundararaman
Flicek, Paul
Parkinson, Helen
Keane, Thomas M
The European Variation Archive: a FAIR resource of genomic variation for all species
title The European Variation Archive: a FAIR resource of genomic variation for all species
title_full The European Variation Archive: a FAIR resource of genomic variation for all species
title_fullStr The European Variation Archive: a FAIR resource of genomic variation for all species
title_full_unstemmed The European Variation Archive: a FAIR resource of genomic variation for all species
title_short The European Variation Archive: a FAIR resource of genomic variation for all species
title_sort european variation archive: a fair resource of genomic variation for all species
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728205/
https://www.ncbi.nlm.nih.gov/pubmed/34718739
http://dx.doi.org/10.1093/nar/gkab960
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