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.
Details physician | |||
First Name | |||
Last Name | |||
Speciality | |||
Hospital Name | |||
City | |||
Country | |||
General | |||
Birth Length | |||
Birth Weight | |||
Birth Head circumference | |||
Current Height | |||
Current Weight | |||
Current Head circumference | |||
Motor delay | |||
Speech delay | |||
Intellectual disabillity | |||
Severity of intellectual disability | |||
Other/specify | |||
Neurology | |||
Neurological abnormalities | |||
Behavioral problems | |||
Brain abnormality | |||
Facial abnormalities | |||
Abnormality of the ear | |||
Abnormality of the eye | |||
Abnormality of the nose | |||
Abnormality of the mouth | |||
Other/specify | |||
Visual and hearing impairments | |||
Abnormal hearing | |||
Abnormal vision | |||
Heart | |||
Abnormality of the heart | |||
Pulmonary | |||
Abnormality of the lungs | |||
Gastrointestinal | |||
Gastrointestinal abnormalities | |||
Urogenital | |||
Abnormality of the urogenital system | |||
Skeleton | |||
Skeletal abnormalities | |||
Skin / Hair / Nails | |||
Abnormality of the skin/hair/nails | |||
Endocrine / Immunological / Metabolic | |||
Abnormality of the endocrine system | |||
Abnormality of the metabolic system | |||
Abnormality of the immune system | |||
Neoplasia | |||
Neoplasia | |||
Other | |||
Specify |
Details physician | |||
First Name | Last Name | ||
Speciality | Hospital Name | ||
City | Country | ||
General | |||
Birth Length | Birth Weight | Birth Head circumference | Current Height | Current Weight | Current Head circumference | Motor delay | Speech delay | Intellectual disabillity | Severity of intellectual disability | Other/specify |
Neurology | |||
Neurological abnormalities | Behavioral problems | Brain abnormality | |
Facial abnormalities | |||
Abnormality of the ear | Abnormality of the eye | Abnormality of the nose | Abnormality of the mouth | Other/specify |
Visual and hearing impairments | |||
Abnormal hearing | Abnormal vision | ||
Heart | |||
Abnormality of the heart | |||
Pulmonary | |||
Abnormality of the lungs | |||
Gastrointestinal | |||
Gastrointestinal abnormalities | |||
Urogenital | |||
Abnormality of the urogenital system | |||
Skeleton | |||
Skeletal abnormalities | |||
Skin / Hair / Nails | |||
Abnormality of the skin/hair/nails | |||
Endocrine / Immunological / Metabolic | |||
Abnormality of the endocrine system | Abnormality of the metabolic system | Abnormality of the immune system | |
Neoplasia | |||
Neoplasia | |||
Other | |||
Specify |