eQTL / molecular QTL mapping

FastQTL efficiently maps QTLs by correlating molecular phenotypes with genetic variants using permutation-based p-value estimation, improving speed over previous methods.

This paper introduces a pooling-based method to map genetic variants associated with DNA methylation, achieving genome-wide coverage and higher statistical power while reducing cost and variability.

The paper identifies genetic variants affecting gene expression using genotypes derived from public RNA-seq data, finding cis-eQTLs for 8,034 genes and strong ASE effects for 34 rare pathogenic variants.

The paper develops a statistical model to identify genomic elements enriched or depleted for SNPs associated with 18 human traits, finding that repressed chromatin is depleted and cell-type-specific DNase-I sites are enriched for trait-associated SNPs.

The paper introduces a method for cell-specific eQTL analysis without cell sorting, showing that Crohn's disease-associated SNPs mainly affect neutrophil gene expression in whole blood data.