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Clinical whole‐exome sequencing results impact medical management

14 Oct 2018

Abstract excerpt

BACKGROUND: Clinical diagnostic whole-exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, reproductive planning, and use of educational services subsequent to WES testing. METHODS: For a period of 18 months, an 18-question survey...

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PMID: 30318729
DOI: 10.1002/mgg3.484

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