Human Genomic Variation Archive (HGVA) is an open-access genomic variation resource that integrates variants from the main reference human projects. HGVA also adds valuable information such as variant annotation: consequence types, population frequencies, protein effect predictions, variant-associated phenotype, etc.
HGVA does not intend to replace or provide full archiving services like NCBI dbSNP or EMBL-EBI EVA projects, these provide excellent submission and accessioning services and play a crucial role allowing scientists to submit variation data for many different species. Instead, HGVA is focused on human and only the most relevant datasets are selected and indexed. HGVA provides different high-performance user interfaces to allow researchers to query and visualise human datasets or to use this data in genomic pipelines.
We would like to thank very much the authors of the different projects such as 1000 Genomes Project or ExAC (see below for a complete list) for making all these invaluable data open and freely accessible for the biomedical community, we hope HGVA will help to make all these data more accessible to them.
Rich variant annotation performed using OpenCB CellBase, including HPO terms, consequence types, substitution effect prediction scores, Gene Ontology terms, etc.