Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation

Autor/inn/en	Chow, Julie C.; Hormozdiari, Fereydoun
Titel	Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation
Quelle	In: Journal of Autism and Developmental Disorders, 53 (2023) 3, S.963-976 (14 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Chow, Julie C.)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-022-05586-z
Schlagwörter	Prediction; Neurodevelopmental Disorders; Identification; Genetics; Accuracy + Suchen Sie Ihr Suchwort? Vorhersage; Identifikation; Identifizierung; Humangenetik
Abstract	The early detection of neurodevelopmental disorders (NDDs) can significantly improve patient outcomes. The differential burden of non-synonymous de novo mutation among NDD cases and controls indicates that de novo coding variation can be used to identify a subset of samples that will likely display an NDD phenotype. Thus, we have developed an approach for the accurate prediction of NDDs with very low false positive rate (FPR) using de novo coding variation for a small subset of cases. We use a shallow neural network that integrates de novo likely gene-disruptive and missense variants, measures of gene constraint, and conservation information to predict a small subset of NDD cases at very low FPR and prioritizes NDD risk genes for future clinical study. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01