The European Variation Archive: a FAIR resource of genomic variation for all species-Reference-Cited by-同舟云学术

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

Published:2021-10-28 Issue:D1 Volume:50 Page:D1216-D1220
ISSN:0305-1048
Container-title:Nucleic Acids Research
language:en
Short-container-title:

Author:

Cezard Timothe¹^ORCID,Cunningham Fiona¹^ORCID,Hunt Sarah E¹^ORCID,Koylass Baron¹,Kumar Nitin¹,Saunders Gary²,Shen April¹,Silva Andres F¹,Tsukanov Kirill¹,Venkataraman Sundararaman¹,Flicek Paul¹^ORCID,Parkinson Helen¹,Keane Thomas M¹^ORCID

Affiliation:

1. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK

2. ELIXIR Hub, Wellcome Genome Campus, Hinxton, Cambridge, UK

Abstract

Abstract 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.

Funder

Wellcome Trust

ELIXIR

European Molecular Biology Laboratory

Publisher

Oxford University Press (OUP)

Subject

Genetics

Link

https://academic.oup.com/nar/article-pdf/50/D1/D1216/42058491/gkab960.pdf

Reference21 articles.

1. dbSNP—database for single nucleotide polymorphisms and other classes of minor genetic variation;Sherry;Genome Res,1999