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Fig. 5 | Genome Medicine

Fig. 5

From: X-CNV: genome-wide prediction of the pathogenicity of copy number variations

Fig. 5

The separating capability of the meta-voting prediction (MVP) score in the pathological categories and its application to rare disease, hereditary tumor, and population genetics. A Distribution of MVP scores in the five pathological categories. The points above the boxes represent the outliers. B AUC values and cutoffs of the meta-voting prediction (MVP) scores to separate the five pathological categories. C The distribution of MVP scores in the pathogenic CNVs of 22 rare disease types. D The number of CNVs harboring cancer predisposition genes and being predicted as pathogenic or likely pathogenic (MVP > 0.46). E The allele frequency distribution of the CNVs categorized by the MVP scores. The average and 95% confidence intervals of population allele frequency of the CNVs categorized by the MVP scores within the ethnic groups

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