ClinVar, NCBI’s archive of submitted associations between alleles in the human genome and diseases or phenotypes, is now producing XML files that aggregate all submitted disease/phenotype information by variant (or set of variants) for public release via FTP bulk download. The new product, called ClinVarVariationRelease, is currently in beta release and will move to full release in early September 2017.
This blog post is directed toward people who use dbSNP and dbVar, particularly those who submit non-human data to the two databases.
dbSNP and dbVar archive, process, display and report information related to germline and somatic variations from multiple species. These two databases have grown rapidly as sequencing and other discovery technologies have evolved, and now contain nearly two billion variants from over 360 species.
Based on projected growth and the resources required to archive and distribute the data, continued support for all organisms will become unsustainable for NCBI in the near future. Therefore, NCBI will phase out support for all non-human organisms in dbSNP and dbVar, and will support only human variation.
This blog post is intended for geneticists and dataflow engineers who need to compare genetic variants.
Have you ever tried to determine if two genetic variants are the same? If so, you’re not alone. There are competing ways to represent variants, handling ambiguous assignments, as well as reconciling updates to underlying sequence models. To help you with these problems, we’re introducing a new set of web services for comparing and grouping variants.