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An approach to pediatric exome and genome sequencing

9 Oct 2014

Abstract excerpt

PURPOSE OF REVIEW: Exome and genome sequencing have recently emerged as clinical tools to resolve undiagnosed genetic conditions. Protocols are critically needed to identify proper patients for testing, select a test and laboratory, engage parents in shared decision-making, and for the return of results. RECENT FINDINGS: Among well selected patients, the likelihood for identifying the causative gene change may be...

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PMID: 25304963
DOI: 10.1097/mop.0000000000000150

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