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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 TypeJournal Article
Year of Publication2020
AuthorsMarshall, CR, Bick, D, Belmont, JW, Taylor, SL, Ashley, E, Dimmock, D, Jobanputra, V, Kearney, HM, Kulkarni, S, Rehm, H
Corporate AuthorsMedical Genome Initiative
JournalGenome Med
Volume12
Issue1
Pages48
Date Published2020 May 27
ISSN1756-994X
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.

DOI10.1186/s13073-020-00748-z
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/32460895?dopt=Abstract

Alternate JournalGenome Med
PubMed ID32460895