Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

ABSTRACT: Congenital heart disease (CHD) is a common group of birth defects with a strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies of isolated CHD has been low. Pleiotropy, variable expressivity, and the difficulty of accurately phenotyping newborns contribute to this problem. We hypothesized that performing exome sequencing on selected individuals in families with multiple members affected by left-sided CHD, then filtering variants by population frequency, in silico predictive algorithms, and phenotypic annotations from publicly available databases would increase this yield and generate a list of candidate disease-causing variants that would show a high validation rate. In eight of the nineteen families in our study (42%), we established a wel

SUBMITTER: Gordon DM 

PROVIDER: S-EPMC9258875 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature