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

Autor:	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
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Clinical whole-genome sequencing Diagnostics Standards Rare genetic disease Medicine Genetics QH426-470
Zdroj:	Genome Medicine, Vol 12, Iss 1, Pp 1-4 (2020)
Druh dokumentu:	article
ISSN:	1756-994X
DOI:	10.1186/s13073-020-00748-z
Popis:	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.
Databáze:	Directory of Open Access Journals
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