PredWES is a machine learning model which predicts the probability of diagnosing a patient with a neurodevelopmental disorder with whole exome sequencing (WES), based on the phenotype in HPO terms (For more information see Dingemans et al. (2021). This tool allows the prioritizing of patients with neurodevelopmental disorders eligible for diagnostic WES testing based on their phenotypic presentation to increase the diagnostic yield, making a more efficient use of health care resources.
As input, you can fill in the form below to select the relevant HPO terms. Please fill in the complete phenotype. After submitting the form, you will receive the probability of a positive WES according to PredWES.
Caution: this tool is to be used for research purposes only, as it is not clinically validated.