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

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

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 guida...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Genome Medicine
Subjects:
Clinical whole-genome sequencing
Diagnostics
Standards
Rare genetic disease
Online Access:http://link.springer.com/article/10.1186/s13073-020-00748-z

Internet

http://link.springer.com/article/10.1186/s13073-020-00748-z

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