Fig. 3: Comparison of the directionality of selected putative V2G pairs across QTL and EPI datasets used for in silico validation.
From: Integrated genomic analysis and CRISPRi implicates EGFR in Alzheimer’s disease risk
All functional genomics data were processed using hipFG44, with effect directionality normalized. For both the left and middle panels, triangles pointing upwards (and in red) mean a positive Z-score, indicating that the alternative allele of a variant increases the gene expression, while those pointing downwards (and in green) mean the opposite effect. The size of the triangles represents the absolute value of the Z-score. The left panel shows the directionality (Z-scores) based on 23 QTL datasets from two data sources. The middle panel presents the average GTEx Z-scores, while the right panel displays the orthogonal support of EPI data for the V2G pairs (with a red square indicating the presence of EPI for that particular data source). The six loci with inconsistent directionalities were shown in yellow.
