Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Whole-genome sequencing (WGS) has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders; however, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consort...

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Foilsithe in:NPJ Genom Med
Main Authors: Marshall, Christian R., Chowdhury, Shimul, Taft, Ryan J., Lebo, Mathew S., Buchan, Jillian G., Harrison, Steven M., Rowsey, Ross, Klee, Eric W., Liu, Pengfei, Worthey, Elizabeth A., Jobanputra, Vaidehi, Dimmock, David, Kearney, Hutton M., Bick, David, Kulkarni, Shashikant, Taylor, Stacie L., Belmont, John W., Stavropoulos, Dimitri J., Lennon, Niall J.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group UK 2020
Ábhair:
Review Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7585436/
https://ncbi.nlm.nih.gov/pubmed/33110627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00154-9
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