Curators' Favorite Papers

The current Curators' Favorite Papers' highlight an article describing a new method in identifying the genetic variation of gene expression using gene sets. To test their novel approach, Abo et al. used KEGG and PharmGKB pathways to define gene sets. In their method, SNPs and mRNA expression were initially grouped as gene sets, then principal components analysis was conducted to collapse the variation and reduce the dimensionality within the gene sets. They proposed that the multiple testing limitations in eQTL studies can be addressed effectively by their method. Many significant associations are found using publicly available data sets. The most significant associations were found between genetic variation and mRNA expression from the same gene sets and provides biological context for SNP-expression associations.