Multi-omics dissection of high TWAS-active endothelial pathogenesis in pulmonary arterial hypertension: bridging single-cell heterogeneity, machine learning-driven biomarkers, and developmental reprogramming.

Abstract excerpt

BACKGROUND: Pulmonary Arterial Hypertension (PAH) is a leading cause of cardiovascular-related mortality worldwide. The emergence of single-cell RNA sequencing (scRNA-seq) has enhanced the ability to dissect cellular heterogeneity in PAH at a granular level. Transcriptome-wide association studies (TWAS) leverage expression quantitative trait loci (eQTL) and genome-wide association study (GWAS) data to identify...

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