Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Abstract
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations. Of these genes, 124 reach exome-wide significance (P < 5 × 10−7) for DNM. Intersecting these results with copy number variation (CNV) morbidity data shows an enrichment for genomic disorder regions (30/253,...
Paper Details
Title
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Published Date
Jan 1, 2019
Journal
Volume
51
Issue
1
Pages
106 - 116
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