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Fig. 4 | Genome Medicine

Fig. 4

From: A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

Fig. 4

CBS variant effect maps (especially the low vitamin B6 map) can successfully distinguish annotated disease-causing variants from other random “non-disease” variants. a, b Fitness score distributions of disease and non-disease variants with low (a) or high (b) levels of vitamin B6. c Precision-recall curves for VE map fitness scores and the computational predictors PROVEAN, PolyPhen-2, and CADD capturing ability of each to discriminate disease from non-disease alleles. VE maps detect many more disease-causing variants at high precision stringency than do any of the computational methods

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