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Article

A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data.

American journal of human genetics - 6 Feb 2025

Yu Xinyi, Hu Xianghong, Wan Xiaomeng, Zhang Zhiyong, Wan Xiang, Cai Mingxuan, Yu Tianwei, Xiao Jiashun

Abstract excerpt

Genome-wide association studies (GWASs) have identified numerous genetic variants associated with complex traits, yet the biological interpretation remains challenging, especially for variants in non-coding regions. Expression quantitative trait locus (eQTL) studies have linked these variations to gene expression, aiding in identifying genes involved in disease mechanisms. Traditional eQTL analyses using bulk RNA...

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Share to Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39824189
DOI: 10.1016/j.ajhg.2024.12.018
PMCID: PMC11866979

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