Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

Gratten, Jacob, Visscher, Peter M., Mowry, Bryan J. and Wray, Naomi R. (2013) Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nature Genetics, 45 3: 234-238. doi:10.1038/ng.2555

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Author Gratten, Jacob
Visscher, Peter M.
Mowry, Bryan J.
Wray, Naomi R.
Title Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2013-03-01
Year available 2013
Sub-type Article (original research)
DOI 10.1038/ng.2555
Open Access Status File (Author Post-print)
Volume 45
Issue 3
Start page 234
End page 238
Total pages 5
Place of publication New York, NY, United States
Publisher Nature Publishing
Language eng
Subject 1311 Genetics
Abstract Pedigree, linkage and association studies are consistent with heritable variation for complex disease due to the segregation of genetic factors in families and in the population. In contrast, de novo mutations make only minor contributions to heritability estimates for complex traits. Nonetheless, some de novo variants are known to be important in disease etiology. The identification of risk-conferring de novo variants will contribute to the discovery of etiologically relevant genes and pathways and may help in genetic counseling. There is considerable interest in the role of such mutations in complex neuropsychiatric disease, largely driven by new genotyping and sequencing technologies. An important role for large de novo copy number variations has been established. Recently, whole-exome sequencing has been used to extend the investigation of de novo variation to point mutations in protein-coding regions. Here, we consider several challenges for the interpretation of such mutations in the context of their role in neuropsychiatric disease.
Keyword De novo mutations
Disease etiology
Neuropsychiatric disease
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID FT0991360
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2014 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 43 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 48 times in Scopus Article | Citations
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