Ashish Kapoor

The paper identifies candidate causal cis-regulatory variants at electrocardiographic QT interval GWAS loci by integrating open chromatin data and expression quantitative trait loci.

The paper identifies functional enhancer variants at QT interval GWAS loci using MPRA and predicts their impact on cardiac gene expression.

The paper investigates the combined effects of SCN5A enhancer variants on gene expression and demonstrates their additive regulatory impact in vitro and in vivo.

The paper investigates the impact of partial NOS1AP loss in cardiac muscle on electrocardiographic features, finding no effect on QT interval but a small reduction in QRS interval.

The paper identifies 31 HSCR-associated variants in RET CREs, ten with differential enhancer activity and seven affecting RET expression, revealing an extensive regulatory code modulating HSCR risk.

The paper identifies common noncoding variants at RET, SEMA3, and NRG1 loci associated with Hirschsprung disease risk in European ancestry individuals, showing cumulative effects on gene expression.

This paper introduces a sequence-based method to correct barcode bias in MPRA experiments, improving detection of functional regulatory variants and capturing post-transcriptional regulatory features.