Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants
Fig 4
Correlation of ePOSE score with three individual endophenotypes.
Measured endophenotype versus predicted impact (ePOSE Score) for 20 CFTR variants using classifiers trained with (A) sweat chloride, (B) chloride conductance, or (C) fraction of correctly processed CFTR protein. Each plot is the result of 20 leave-one-out cross-validation calculations (i.e., one data point for each of the 20 variants). Blue circles, green squares, and red diamonds denote benign, indeterminate, and disease-causing annotated phenotype, respectively, for each of the 20 variants. Note: increasing sweat chloride is associated with increasing disease severity, whereas for the two in vivo assays, decreasing values correspond to decreasing protein function or processing.