Genome Medicine (May 2020)

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

  • Christian R. Marshall,
  • David Bick,
  • John W. Belmont,
  • Stacie L. Taylor,
  • Euan Ashley,
  • David Dimmock,
  • Vaidehi Jobanputra,
  • Hutton M. Kearney,
  • Shashikant Kulkarni,
  • Heidi Rehm,
  • on behalf of the Medical Genome Initiative

DOI
https://doi.org/10.1186/s13073-020-00748-z
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 4

Abstract

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Abstract Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS.

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