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Updated: May 10, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Protocol for identifying cell-type-specific genes associated with disease risk using single-cell eQTL data
Xin Fang1, Lijun Bian1, Caiwang Yan2
1Department of Epidemiology, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing 211166, China; State Key Laboratory Cultivation Base of Biomarkers for Cancer Precision Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine and China International Cooperation Center for Environment and Human Health, Nanjing Medical University, Nanjing 211166, China.
None:
Here, we present a protocol for mapping cell-type-specific cis-acting expression quantitative trait loci (cis-eQTLs) in a target tissue and integrating them with genome-wide association study (GWAS) data. We describe pooled-sample multiplexed sequencing, genotype-based cell demultiplexing, cis-eQTL detection in specific cell types, and integration of single-cell eQTLs with GWAS. This protocol facilitates the identification of candidate risk genes and mechanisms underlying disease susceptibility. For complete details on the use and execution of this protocol, please refer to Bian et al.1.
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