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Fig. 5 | Genome Medicine

Fig. 5

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

Fig. 5

CBS VE maps, which have not been trained on patient data, successfully predict patient phenotype and response to vitamin B6 therapy. ad Correlation between diploid VE map or PROVEAN scores and age of onset. eh Correlation between diploid VE map or PROVEAN scores and disease severity scores. il Correlation between diploid VE map or PROVEAN scores and clinical vitamin B6 response. Degree of disease severity: 5 = no symptoms at the time of diagnosis, 4 = mild disease, 3 = moderate disease, 2 = borderline severity, 1 = severe disease. Degree of vitamin B6 responsiveness: 1 = non-responsive, 2 = partial responsive, 3 = fully responsive, 4 = extremely pyridoxine responsive. A small amount of random noise (jitter) was added to the categorical values of disease severity and vitamin B6 responsiveness to visually separate coincident data points. The amount of random noise is uniformly distributed in the interval [0;0.2]. Vertical lines connect data points with identical genotypes

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