Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
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ABSTRACT:
SUBMITTER: Coe BP
PROVIDER: S-EPMC6309590 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Publications
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Coe Bradley P BP Stessman Holly A F HAF Sulovari Arvis A Geisheker Madeleine R MR Bakken Trygve E TE Lake Allison M AM Dougherty Joseph D JD Lein Ed S ES Hormozdiari Fereydoun F Bernier Raphael A RA Eichler Evan E EE
Nature genetics 20181217 1
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<sup>-7</sup>) for DNM. Intersecting these results with copy number variation (CNV) morbidity data shows an enrichment for genomic disorder regions (30/253, likelihood ratio (LR) +1.85, P = 0.0017). We iden ...[more]
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