DNAdigest and Repositive: Connecting the World of Genomic Data.

Kovalevskaya NV1,2, Whicher C2, Richardson TD2, Smith C1,2, Grajciarova J2, Cardama X2, Moreira J2, Alexa A2, McMurray AA2, Nielsen FG1,2.

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Abstract

There is no unified place where genomics researchers can search through all available raw genomic data in a way similar to OMIM for genes or Uniprot for proteins. With the recent increase in the amount of genomic data that is being produced and the ever-growing promises of precision medicine, this is becoming more and more of a problem. DNAdigest is a charity working to promote efficient sharing of human genomic data to improve the outcome of genomic research and diagnostics for the benefit of patients. Repositive, a social enterprise spin-out of DNAdigest, is building an online platform that indexes genomic data stored in repositories and thus enables researchers to search for and access a range of human genomic data sources through a single, easy-to-use interface, free of charge.