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Article

Identification and Functional Assessment of Candidate Causal Cis-Regulatory Variants Underlying Electrocardiographic QT Interval GWAS Loci.

Circulation. Genomic and precision medicine - 1 Jun 2025

Kadagandla Supraja, Gunamalai Lavanya, Lee Dongwon, Kapoor Ashish

Abstract excerpt

BACKGROUND: Identifying causal variants among tens or hundreds of associated variants at each locus in genome-wide association studies is challenging. As the vast majority of genome-wide association studies variants are noncoding, sequence variation at cis-regulatory elements (CREs) affecting transcriptional expression of specific genes is a widely accepted molecular hypothesis. Following this hypothesis,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40421528
DOI: 10.1161/CIRCGEN.124.005032
PMCID: PMC12173768

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