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Title: Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation
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.  more » « less
Award ID(s):
2042518
PAR ID:
10367380
Author(s) / Creator(s):
;
Publisher / Repository:
Springer Science + Business Media
Date Published:
Journal Name:
Journal of Autism and Developmental Disorders
Volume:
53
Issue:
3
ISSN:
0162-3257
Page Range / eLocation ID:
p. 963-976
Format(s):
Medium: X
Sponsoring Org:
National Science Foundation
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