Investigating genes associated with cardiovascular disease among heart failure patients for translational research and precision medicine

Background Cardiovascular disease (CVD) is a leading cause of premature mortality in the United States and world. CVD comprises several complex mostly heritable conditions, which range from myocardial infarction to congenital heart disease. The risk factors contributing development response therapy an individual patient are highly variable. Here, we report our findings integrative analysis gene expression, disease-causing variants associated phenotypes among populations, with focus on high-risk failure (HF) patients. Methods We built cohort using electronic health records consented patients available samples then performed high-throughput whole genome RNA sequencing key genes responsible for HF other pathologies. Our in-depth expression revealed differentially expressed CVDs. variant sequence data identified altered functional non-functional mutations these genes. Results results highlight importance investigating mechanisms progression through multi-omics datasets. Next, splice mutation distribution CVD. implemented Jensen–Shannon divergence (JSD)-based method HBA1, FADD, ADRB2, NPPB, ADRB1, ADB NPPC greatest variance based their JSD scores. study provided evidence that applying approach involving genomics transcriptomics will not only help understand pathophysiology diseases but also reduce heterogeneity subtypes.