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PredWES

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. 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.
Of note: this tool is to be used for research purposes only, as it is not clinically validated. Use at your own risk.

I declare that my patient or his/her parent(s)/guardian(s) has been informed that his/her clinical information has been anonymously uploaded to the Human Disease Genes website series or that the patient or his/her parent(s)/guardian(s) has given consent for a publicly accessible publication.*

Details physician

Details patient

General

Neurology




Facial abnormalities





Visual and hearing impairments



Heart


Gastrointestinal


Urogenital


Skeleton


Skin / hair / nails


Endocrine / Immunological / Metabolic




Neoplasia


Inheritance

Other

Family details