The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clin...
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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...
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Full title
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
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TN_cdi_doaj_primary_oai_doaj_org_article_4264dfc1843f467c90a0e29dff46fc69
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4264dfc1843f467c90a0e29dff46fc69
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-020-00748-z
