Fig. 1: Comparison of missense variant prediction methods. | npj Genomic Medicine

Fig. 1: Comparison of missense variant prediction methods.

From: Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft

Fig. 1

A Number of variants in each score percentile bin, which corresponds to 5% increments, for ten missense variant effect predictions. Only de novo variants in 225 human CHD genes, which are listed in (Supplementary Data 2), are considered. The orange line depicts the precision at each percentile threshold. B Enrichment of missense variants in 5% PrimateAI score bins for all de novo variants in CHD patients and unaffected children. The error bars are 95% bootstrap confidence intervals. MisA, missense class A (PrimateAI ≥ 0.9); MisB missense class B (0.75 < PrimateAI ≤ 0.9).

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