Article
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022
Dingemans Alexander J M, Hinne Max, Jansen Sandra, van Reeuwijk Jeroen, de Leeuw Nicole, Pfundt Rolph, van Bon Bregje W, Vulto-van Silfhout Anneke T, Kleefstra Tjitske, Koolen David A, van Gerven Marcel A J, Vissers Lisenka E L M, de Vries Bert B A
Abstract excerpt
PURPOSE: Although the introduction of exome sequencing (ES) has led to the diagnosis of a significant portion of patients with neurodevelopmental disorders (NDDs), the diagnostic yield in actual clinical practice has remained stable at approximately 30%. We hypothesized that improving the selection of patients to test on the basis of their phenotypic presentation will increase diagnostic yield and therefore...
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