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...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Npj genomic medicine 2020-10, Vol.5 (1), p.47-47, Article 47
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/2489/1512 631/208/514/2254 692/700/139/1420 692/700/139/1512 Bioinformatics Biomedical and Life Sciences Biomedicine Gene Function Gene Therapy Genetic disorders Genomes Human Genetics Internal Medicine Review Review Article
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!