Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

ABSTRACT: Congenital heart disease (CHD) is a prevalent condition characterized by defective heart development, causing premature death and stillbirths among infants. Genome-wide association studies (GWASs) have provided insights into the role of genetic variants in CHD pathogenesis through the identification of a comprehensive set of single-nucleotide polymorphisms (SNPs). Notably, 90-95% of these variants reside in the noncoding genome, complicating the understanding of their underlying mechanisms. Here, we developed a systematic computational pipeline for the identification and analysis of CHD-associated SNPs spanning both coding and noncoding regions of the genome. Initially, we curated a thorough dataset of SNPs from GWAS-catalog and ClinVar database and filtered them based on CHD-related trait

SUBMITTER: Vashisht S 

PROVIDER: S-EPMC11749323 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature