Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

ABSTRACT:

Objectives

Whole exome sequencing (WES) has been widely used to detect genetic disorders in critically ill children. Relevant data are lacking in pediatric intensive care units (PICUs) of China. This study aimed to investigate the spectrum of monogenic disorders, the diagnostic yield and clinical utility of WES from a PICU in a large children's hospital of China.

Methods

From July 2017 to February 2020, WES was performed in 169 critically ill children with suspected monogenic diseases in the PICU of Beijing Children's Hospital. The clinical features, human phenotype ontology (HPO) terms, and assessment of clinical impact were analyzed.

Results

The media age of the enrolled children was 10.5 months (range, 1 month to 14.8 years). After WES, a total of 43 patients (25%)

SUBMITTER: Liu Y 

PROVIDER: S-EPMC8440967 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature