期刊
NATURE GENETICS
卷 45, 期 3, 页码 234-238出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2555
关键词
-
资金
- Australian Research Council [FT0991360]
- Australian National Health and Medical Research Council [613672, 613601, 1011506, 631406, 631671, 613602, 613608]
- Queensland Health
- Australian Research Council [FT0991360] Funding Source: Australian Research Council
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据