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Thursday, October 21, 2021

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Invitae Corporation

Invitae Study of 143,000 Patients Shows Importance of Routinely Including Deletion and Duplication Detection with Sequencing in Genetic Testing

6/13/18: "This landmark study's findings suggest that CNVs are not just clinically significant, they are a critical piece of genetic information that can and should be delivered as part of comprehensive clinical testing," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Universal CNV analysis is no longer an optional part of genetic testing. Appropriate application of NGS technology eliminates cost as a barrier to routine CNV testing, making it accessible alongside sequencing in a single test when clinicians need genetic test results to help make clinical decisions."

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