Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med
; 7(1): 27, 2022 Apr 08.
Article
en En
| MEDLINE
| ID: mdl-35395838
ABSTRACT
Whole genome sequencing (WGS) shows promise as 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 consortium of leading health care and research organizations in the US and Canada, was formed to expand access to high quality clinical WGS by convening experts and publishing best practices. Here, we present best practice recommendations for the interpretation and reporting of clinical diagnostic WGS, including discussion of challenges and emerging approaches that will be critical to harness the full potential of this comprehensive test.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Guideline
Idioma:
En
Revista:
NPJ Genom Med
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos