Nature Reviews Genetics 17, 252 (2016). doi:10.1038/nrg.2016.38
Author: Linda Koch
A prospective study has found that singleton whole-exome sequencing (WES) as a first-tier test in infants with suspected monogenic genetic disorders outperforms standard care. The team compared the rate of diagnosis, clinical utility and impact on management of singleton WES with that of standard investigations,
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