Dec 17, 2019

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders | Genetics in Medicine

To prospectively evaluate the diagnostic and clinical utility of singleton whole-exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease. Singleton WES was performed as a first-tier sequencing test in infants recruited from a single pediatric tertiary center. This occurred in parallel with standard investigations, including single- or multigene panel sequencing...

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