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

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 s...

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Bibliographic Details
Published in:Genome medicine 2020-05, Vol.12 (1), p.48-48, Article 48
Main Authors: Marshall, Christian R, Bick, David, Belmont, John W, Taylor, Stacie L, Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M, Kulkarni, Shashikant, Rehm, Heidi
Format: Article
Language:English
Subjects:
Best practice
Clinical whole-genome sequencing
Comment
Diagnostic tests
Diagnostics
Disease
DNA sequencing
Genome, Human
Genomes
Genomics
Humans
Infrastructure
Medical diagnosis
Medical laboratories
Medical schools
Patients
Rare diseases
Rare Diseases - diagnosis
Rare Diseases - genetics
Rare genetic disease
Whole genome sequencing
Whole Genome Sequencing - standards
Working groups
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Summary: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.
ISSN:1756-994X
1756-994X
DOI:10.1186/s13073-020-00748-z