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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585436/
https://www.ncbi.nlm.nih.gov/pubmed/33110627
http://dx.doi.org/10.1038/s41525-020-00154-9

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