Risk Variants in the Exomes of Children With Critical Illness.

ABSTRACT:

Importance

Diagnostic genetic testing can lead to changes in management in the pediatric intensive care unit. Genetic risk in children with critical illness but nondiagnostic exome sequencing (ES) has not been explored.

Objective

To assess the association between loss-of-function (LOF) variants and pediatric critical illness.

Design, setting, and participants

This genetic association study examined ES first screened for causative variants among 267 children at the Morgan Stanley Children's Hospital of NewYork-Presbyterian, of whom 22 were otherwise healthy with viral respiratory failure; 18 deceased children with bronchiolitis from the Office of the Chief Medical Examiner of New York City, of whom 14 were previously healthy; and 9990 controls from the Institute for Ge

SUBMITTER: Motelow JE 

PROVIDER: S-EPMC9617179 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature