Figure 1.

Usage of the scoring and filtering approaches to identify candidate markers of type 2 diabetes (T2D) and obesity in Russian population. (a,b). Probability of positive test outcome (Score1 > 10) (a) and the expected value of Score1 (b) for variants with different true population minor allele frequency (MAF) and true odds ratio (tOR), as estimated by in silico simulation (see Methods). (c). Distribution of values of two additive scores (Score1 and Score2, see text) under dominant inheritance model for damaging coding variants inside genes implicated in T2D and other genes n/s—non-significant difference in U-test. (d). Distributions of the random expectation numbers of case-unique protein-altering variants inside implicated (top) and non-implicated (bottom) genes. Yellow arrowheads indicate observed values. (e). Schematic representation of whole exome sequencing (WES) data analysis used in the present study. Rounded rectangles represent data manipulations.