Article
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2020
Gubbels Cynthia S, VanNoy Grace E, Madden Jill A, Copenheaver Deborah, Yang Sandra, Wojcik Monica H, Gold Nina B, Genetti Casie A, Stoler Joan, Parad Richard B, Roumiantsev Sergei, Bodamer Olaf, Beggs Alan H, Juusola Jane, Agrawal Pankaj B, Yu Timothy W
Abstract excerpt
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 <6 months with hypotonia, seizures, a complex metabolic phenotype, and/or multiple congenital malformations were prospectively enrolled for rapid (<7 day) trio-based exome sequencing. Genomic variants relevant to the...
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