[HTML][HTML] Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
CS Gubbels, GE VanNoy, JA Madden… - Genetics in …, 2020 - Elsevier
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 presenting phenotype were returned to
the medical team. Results A genetic diagnosis was attained in 29 of 50 (58%) sequenced …
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 presenting phenotype were returned to
the medical team. Results A genetic diagnosis was attained in 29 of 50 (58%) sequenced …