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

Author

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

Subjects
Clinical whole-genome sequencing, Diagnostics, Standards, Rare genetic disease, Medicine, Genetics, QH426-470
Abstract

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.

Published
2020
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