Effectively identifying regulatory hotspots while capturing expression heterogeneity in gene expression studies.
Expression quantitative trait loci (eQTL) mapping is a tool that can systematically identify genetic variation affecting gene expression. eQTL mapping studies have shown that certain genomic locations, referred to as regulatory hotspots, may affect the expression levels of many genes. Recently, studies have shown that various confounding factors may induce spurious regulatory hotspots. Here, we introduce a novel statistical method that effectively eliminates spurious hotspots while retaining genuine hotspots. Applied to simulated and real datasets, we validate that our method achieves greater sensitivity while retaining low false discovery rates compared to previous methods.
Jong Wha J
JW
Joo
Jae Hoon
JH
Sul
Buhm
B
Han
Chun
C
Ye
Eleazar
E
Eskin
D000465:Algorithms; D020869:Gene Expression Profiling / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*; D012680:Sensitivity and Specificity; D015003:Yeasts / Q000235:genetics