Data sharing and gene variant databases

DNA diagnostics is based on sharing information on genes, variants, and phenotypes. Without sharing, DNA diagnostics would not be possible. Sharing is the cheapest way to classify variants. In the ideal situation, diagnostic laboratories automatically share their data with public repositories before they use them to classify their variants. Besides their role in diagnostics, databases direct research, give insights in the function of the gene, guide rationally designed treatments, and promote interaction between scientists, scientists and patients, and patients. There are hundreds of databases containing information on genes, variants, and phenotypes. We focus here on those containing information aiding clinical classification of the variant: disease-associated or not. We discriminate two major types: general and focused databases. Of the general databases we briefly describe OMIM, dbSNP/EVA, and gnomAD, the information they contain, and their use is diagnostics. The focused databases HGMD, LOVD, and ClinVar are described in more detail.