The European Variation Archive: A Central Resource for Genetic Variation Data

The European Variation Archive (EVA; www.ebi.ac.uk/eva) archives all types of variation data from all species, and currently more than 40% of all variants archived at EVA are from non-human organisms, mostly plant and livestock. We aim to provide a resource to the plant and animal community that can accession, archive and provide views of genetic variation data more quickly and in a more granular manner than any other resource of this nature, worldwide. 

EVA predominantly archives genetic variation data in Variant Call Format (VCF) files, which is the community standard for describing and sharing variants. We shall present an overview of the ways in which EVA works with data submitters during the submission process to confirm that archived data is truly valid and associated with rich metadata to ensure that these data are of most benefit to the community.

At EVA, archived variants are normalized and annotated using a variety of standardized methods, including Ensembl’s Variant Effect Predictor. We shall present the ways in which users can mine these data using filters on the website to construct both study-centric and global queries, filtering on any combination of species, methodology, variant type, phenotype, consequence or allele frequency and show how results from these queries can be downloaded in a variety of formats including VCF and CSV. Additionally, EVA provides a comprehensive RESTful web-service, to allow programmatic access, and hence the integration of these data with other resources such as Ensembl Variation and Uniprot, and this shall also be presented.