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Integrative single-cell eQTL and GWAS analyses identify cell-type-specific regulatory mechanisms underlying ESCC susceptibility
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DOI:10.1016/j.celrep.2026.117790.png)
Abstract
En 中文
• Single-cell eQTL mapping uncovers cell-type-resolved genetic regulation in ESCC • Shared eQTLs exhibit stronger effects and enrich core biological pathways • Integrative prioritization identifies RPS3A as a cell-type-specific susceptibility gene • RPS3A dysregulation modulates alternative splicing programs in ESCC
Keywords:
esophageal squamous cell carcinoma
genome-wide association study
single-cell transcriptomics
tumor microenvironment
enhancer-promoter interaction
alternative splicing
eQTL
genetic susceptibility
RPS3A
CP: cancer
CP: genomics
Journal
IF:
6.9
Papers:
1.7W
Citations:
10.2W
