Genome Med DOI:10.1186/s13073-020-00748-z

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

Publication Type	Journal Article
Year of Publication	2020
Authors	Marshall, CR, Bick, D, Belmont, JW, Taylor, SL, Ashley, E, Dimmock, D, Jobanputra, V, Kearney, HM, Kulkarni, S, Rehm, H
Corporate Authors	Medical Genome Initiative
Journal	Genome Med
Volume	12
Issue	1
Pages	48
Date Published	2020 May 27
ISSN	1756-994X
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.
DOI	10.1186/s13073-020-00748-z
Pubmed	http://www.ncbi.nlm.nih.gov/pubmed/32460895?dopt=Abstract
Alternate Journal	Genome Med
PubMed ID	32460895

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