ArticlePharmacogenomics and personalized medicine2025
Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort.
Article in Pharmacogenomics and personalized medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Atrial septal defect (ASD) is a common congenital heart defect with incompletely understood genetic underpinnings, particularly in specific ethnic groups. This study aimed to identify novel genetic variants related to ASD within the Tibetan population using whole exome sequencing (WES). Methods: Genomic DNA was extracted from blood samples of 17 Tibetan ASD patients. WES was performed using the Illumina HiSeq platform. After rigorous filtering, detection, and annotation of single nucleotide variations (SNVs) and insertion-deletions (InDels), potentially pathogenic variants were prioritized. Functional impact predictions were conducted using SIFT, PolyPhen V2, MutationTaster, and CADD databases to identify variants likely contributing to ASD etiology. Results: We identified nine high-confidence candidate variants in Tibetan ASD patients, including rs145116532 ( Conclusion: This first WES-based study of Tibetan ASD patients reveals population-specific genetic determinants. The nine novel candidate variants, particularly in
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