European Variation Archive (360G-Wellcome-208377_Z_17_Z)

The European Variation Archive (EVA, https://www.ebi.ac.uk/eva/) is a primary open repository for archiving, accessioning and distributing genome variation, including single nucleotide variants, short insertions and deletions (indels), and larger structural variants (SVs) in any species. Services to researchers include long-term archiving of variants; calculation of standard variant annotation; and an intuitive browser to query and view variants from studies or across an entire species. The EVA peers with the NCBI-based dbSNP and dbVar databases to form a worldwide network for exchanging and brokering submissions, and to assign permanent study and locus identifiers. As described in this proposal, the EVA will become solely responsible for variant locus accessioning for all non-human species. We will provide access to all of the controlled access variation data in the European Genome-phenome Archive (EGA) in the EVA browser. The EVA will continue leading community standards bodies, including tasks for the Global Alliance for Genomics and Health (GA4GH), to develop data models for variant representation, data formats and APIs for data integration with other resources. EVA’s comprehensive API is extensively used by translational and species-specific resources.