A comprehensive genetic profiling of variants associated with dyslipidemia through whole-exome sequencing in Indian patients

Dyslipidemia, a major risk factor for cardiovascular diseases (CVD), exhibits significant genetic variation across populations, yet its molecular basis remains underexplored in the Indian context. To address this issue, we conducted Whole Exome Sequencing (WES) on individuals with abnormal lipid profiles, a history of coronary artery disease (CAD), and familial CVD risk. DNA extracted from blood was sequenced at 80–100X depth using the SURFSeq 5000 platform with a custom capture kit for coding regions. Variant calling and annotation followed ACMG guidelines, using Sentieon and VarSeq pipelines, along with multiple databases and in silico prediction tools.