Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group
is undetermined. Objective To determine the diagnostic yield and use of clinical exome
sequencing in critically ill infants. Design, Setting, and Participants Clinical exome
sequencing was performed for 278 unrelated infants within the first 100 days of life who
were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period …
early infant death, to our knowledge, the contribution of single-gene disorders in this group
is undetermined. Objective To determine the diagnostic yield and use of clinical exome
sequencing in critically ill infants. Design, Setting, and Participants Clinical exome
sequencing was performed for 278 unrelated infants within the first 100 days of life who
were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period …
