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

ABSTRACT: 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 consortium of leading healthcare and research organizations in the US and Canada, was formed to expand access to high-quality clinical WGS by publishing best practices. Here, we present consensus recommendations on clinical WGS analytical validation for the diagnosis of individuals with suspected germline disease with a focus on test development, upfront considerations for test design, test validation practices, and metrics to monitor test performance. This work also provides insight into the current s

SUBMITTER: Marshall CR 

PROVIDER: S-EPMC7585436 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature