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Tags: exome sequencing

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Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes

Purpose: Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility.…

Tags: 2021, Clinical management, Congenital Anomalies, exome sequencing, genetic condition, Genetics in Medicine, Hazelton P, July 2021 List, prenatal, Swarr DT, Tolusso LK, Wong B

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

PURPOSE: To investigate the impact of rapid-turnaround exome sequencing in critically ill neonates using phenotype-based subject selection criteria. METHODS: Intensive care unit babies aged

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