PLoS Biology (Mar 2016)

DNAdigest and Repositive: Connecting the World of Genomic Data.

  • Nadezda V Kovalevskaya,
  • Charlotte Whicher,
  • Timothy D Richardson,
  • Craig Smith,
  • Jana Grajciarova,
  • Xocas Cardama,
  • José Moreira,
  • Adrian Alexa,
  • Amanda A McMurray,
  • Fiona G G Nielsen

DOI
https://doi.org/10.1371/journal.pbio.1002418
Journal volume & issue
Vol. 14, no. 3
p. e1002418

Abstract

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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.