期刊
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
卷 53, 期 3, 页码 963-976出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10803-022-05586-z
关键词
De novo mutation; Early prediction; Neural network; Likely gene-disruptive; Missense
Early detection of neurodevelopmental disorders (NDDs) is crucial for improving patient outcomes. By analyzing the differential burden of genetic mutations, a subset of NDD cases can be accurately predicted and prioritized for further clinical study.
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.
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