Secondary findings in 421 whole exome-sequenced Chinese children.

ABSTRACT:

Background

Variants with known or possible pathogenicity located in genes that are unrelated to primary disease conditions are defined as secondary findings. Secondary findings are not the primary targets of whole exome and genome sequencing (WES/WGS) assay but can be of great practical value in early disease prevention and intervention. The driving force for this study was to investigate the impact of racial difference and disease background on secondary findings. Here, we analyzed secondary findings frequencies in 421 whole exome-sequenced Chinese children who are phenotypically normal or bear congenital heart diseases/juvenile obesity. In total, 421 WES datasets were processed for potential deleterious variant screening. A reference gene list was defined according to the America

SUBMITTER: Chen W 

PROVIDER: S-EPMC6137878 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature