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Best practices for the interpretation and reporting of clinical whole genome sequencing

8 Apr 2022

Abstract excerpt

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...

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PMID: 35395838
DOI: 10.1038/s41525-022-00295-z

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