Additional file 3: Figure S2. of A biologically informed method for detecting rare variant associations

Wilcoxon type I error per biological feature. QQ plots for the type I error Wilcoxon Rank Sum analysis showing the p-value distribution from the average gene (a), XL gene (b), and pathway (c) simulations. The different colors represent various BioBin weighting schemes analyzed. (PNG 147 kb

Additional file 1: of A biologically informed method for detecting rare variant associations

Script for generating reference sequence. Python script used to generate a reference sequence file for input into SeqSIMLA2 simulation software. The allele frequency file used in the script was obtained by parsing the protein coding regions of the autosomes in the 1000 Genomes Project VCF file. Additional specifications include the number of reference samples to generate and the number of markers to include in the reference file. (DOCX 14 kb

Additional file 2: Figure S1. of A biologically informed method for detecting rare variant associations

Logistic regression type I error per biological feature. QQ plots for the type I error logistic regression analysis showing the p-value distribution from the average gene (a), XL gene (b), and pathway (c) simulations. The different colors represent various BioBin weighting schemes analyzed. (PNG 170 kb