Characterization of genomic variants associated with congenital heart disease in patients from southwestern Colombian.

ABSTRACT: Congenital heart diseases correspond to errors during embryogenesis, generating structural and functional malformations. Congenital heart diseases are the most prevalent congenital malformations and are responsible for the highest infant morbidity and mortality. Among these cases, 8 % can be attributed to variants in genes associated with cardiac development. To establish the population frequency of genomic variants that cause congenital heart disease, a review of the scope of prevalent genes was carried out, complete exome sequencing results of 320 patients without suspicion of congenital heart disease were used, the exome sequencing is a technique based on DNA extraction using a Qiagen kit, with massive sequencing of Nextera TM libraries using an Illumina platform with 100X coverage, ali

SUBMITTER: Grueso Ceron AL 

PROVIDER: S-EPMC10767385 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature