Fig. 5
From: Using multi-scale genomics to associate poorly annotated genes with rare diseases
Comparative performance of NPP, STRING, and EvORanker using the 109-patient exome and the simulated datasets. The performance of each dataset was measured by examining the ranking of the “true” disease-causing gene relative to the other genes in each exome/genome in both datasets. The upper bar plot shows results for the autosomal and X-linked recessive cases for the real-exome dataset (left) and the simulated dataset (right), The simulated dataset contains 181 unique recessive cases and 119 unique dominant cases. The results present a compilation of three separate independent shuffles totaling 900 simulations. The lower bar plot shows results for the autosomal and X-linked dominant cases. The y-axis indicates the tested datasets: NPP (using the top 50 coevolved genes), STRING versions 9.1, 11.5, and EvORanker (combining NPP and the newer version of STRING). The x-axis indicates the percentage of cases where the “true” disease gene was ranked at the top, or within the top 3 or top 5 genes relative to the other candidate genes in recessive cases. In dominant cases, the percentage is for the “true” gene being ranked at the top or within the top 10 genes. Overall, the best performance was achieved using the combined approach (EvORanker) in both datasets