A Targeted, Next-Generation Genetic Sequencing Study on Tetralogy of Fallot, Combined With Cleft Lip and Palate.

ABSTRACT:

Background

Congenital heart disease (CHD), plus cleft lip and palate (CLP) are currently the most common types of structural malformation in infants. Many genes have been investigated for their involvement in CHD with CLP. Targeted next-generation sequencing can analyze large amounts of genetic information rapidly, and thus address this question.

Methods

The authors designed a targeted, next-generation sequencing gene panel for 455 genes previously implicated in CHD or CLP. A single-subject patient served as a genetic source. Variants that affect protein-coding regions were classified into silico and filtered through databases, such as the Single-Nucleotide Polymorphism Database, Yan Huang, the Exome Sequencing Project, and the 1000 Genomes Project. The authors then predicte

SUBMITTER: Liu L 

PROVIDER: S-EPMC5459582 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature