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Fig. 4 | Genome Medicine

Fig. 4

From: X-CAP improves pathogenicity prediction of stopgain variants

Fig. 4

X-CAP eliminates the most benign stopgain VUS in control exomes. We plot the fraction of rare benign stopgain variants that were assigned scores below the 95%-sensitivity threshold for each classifier. These variants were taken from exomes from a control population (N=480) in an Inflammatory Bowel Disease (IBD) study. The performance of all classifiers on exomes nicely matches their performance on aggregated variant sets in Fig. 3b and Additional file 1: Fig. S3b. X-CAP increases the percentage of benign VUS eliminated by 4.4-fold

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