pgen.1009060.g003.tif (1.17 MB)

Performance identifying causal genes in simulations.

Download (1.17 MB)
posted on 15.12.2020, 18:27 by Corbin Quick, Xiaoquan Wen, Gonçalo Abecasis, Michael Boehnke, Hyun Min Kang

Proportion of simulation replicates in which causal gene is top-ranked at its locus (y-axis) for each gene-based association or gene ranking method (x-axis & bar fill color) stratified by locus heritability (color shade) when either coding, eQTL, enhancer, UTR variants are causal (left panel facets), or a mixture in which either coding, eQTL, enhancer, or UTR variants are causal with equal probability (“heterogeneous across loci”; right panel). TSS-to-top-SNP refers to ranking genes by the distance between their TSS and the most significant single variant at each locus; dTSS-weighted gene-based tests (labeled dTSS) use exponential weight functions to assign higher weight to variants nearer the TSS for each gene (Materials and methods).