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

Genome Medicine
https://genomemedicine.biomedcentral.com/articles
[Accessed 30 May 2020]

 

Comment
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Authors: Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni and Heidi Rehm
Citation: Genome Medicine 2020 12:48
Content type: Comment
Published on: 27 May 2020
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.