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

23 Oct 2020

Abstract excerpt

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...

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PMID: 33110627
DOI: 10.1038/s41525-020-00154-9

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