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Fig. 6 | Genome Medicine

Fig. 6

From: Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

Fig. 6

Integration of the bioinformatic analysis results using deep learning. a Scheme for the NN model. White circle: neurons of layers; line: connections between neurons. b AUC of the full NN model, the eight predictors, and the three existing gene prioritization metrics for PC3 and NC3. The blue violin plot for the NN model (“NN”) represents the distribution based on 500 full NN models, with a red dot indicating the median. c Violin plots of the full NN model scores of various gene sets. PL: the 34 plausible candidate genes. P-values of one-tailed Wilcoxon rank-sum tests are shown above. d Posterior probabilities that the 34 plausible candidate genes are true NDD-associated genes. The probabilities are the median of probabilities computed by 100 full NN models. NN model scores are shown in parentheses. Genes are arranged in the order of NN model scores. Dotted line: 90%

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