Large-scale genomics unveils the genetic architecture of psychiatric disorders.
Large-scale genomics unveils the genetic architecture of psychiatric disorders.
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DOI：
10.1038/nn.3708
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发表时间：
2014-06
影响因子：
25
通讯作者：
Visscher, Peter M.
中科院分区：
文献类型：
--
作者：
Gratten, Jacob;Wray, Naomi R.;Keller, Matthew C.;Visscher, Peter M.
家族研究与遗传效应对精神疾病（如精神分裂症）的风险做出重大贡献是一致的，但在大样本分析整个基因组的技术出现之前，对解释群体风险变化的特定遗传变异的可靠鉴定一直令人失望。我们强调最近的进展，导致更好地了解人口中的风险变异的数量和等位基因频率和效应大小的相互作用。新兴的遗传结构意味着大量的贡献位点（即，高基因组范围的突变靶点），并表明精神疾病的遗传风险涉及许多常见的小效应变体以及罕见的大效应和新生变体的综合效应。捕获相当大比例的遗传风险有助于新的研究设计，以调查基因和环境的综合影响。
Family studies are consistent with genetic effects making substantial contributions to risk of psychiatric disorders such as schizophrenia, yet robust identification of specific genetic variants that explain variation in population risk had been disappointing until the advent of technologies that assay the entire genome in large samples. We highlight recent progress that has led to a better understanding of the number of risk variants in the population and the interaction of allele frequency and effect size. The emerging genetic architecture implies a large number of contributing loci (that is, a high genome-wide mutational target) and suggests that genetic risk to psychiatric disorders involves the combined effects of many common variants of small effect, as well as rare and de novo variants of large effect. The capture of a substantial proportion of genetic risk facilitates new study designs to investigate the combined effects of genes and the environment.
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影响因子：
16.2
作者：
Iossifov I;Ronemus M;Levy D;Wang Z;Hakker I;Rosenbaum J;Yamrom B;Lee YH;Narzisi G;Leotta A;Kendall J;Grabowska E;Ma B;Marks S;Rodgers L;Stepansky A;Troge J;Andrews P;Bekritsky M;Pradhan K;Ghiban E;Kramer M;Parla J;Demeter R;Fulton LL;Fulton RS;Magrini VJ;Ye K;Darnell JC;Darnell RB;Mardis ER;Wilson RK;Schatz MC;McCombie WR;Wigler M
通讯作者：
Wigler M
DOI：
10.1073/pnas.0906182107
发表时间：
2010-01-26
影响因子：
11.1
作者：
Eyre-Walker, Adam
通讯作者：
Eyre-Walker, Adam
影响因子：
30.8
作者：
Gratten, Jacob;Visscher, Peter M.;Wray, Naomi R.
通讯作者：
Wray, Naomi R.
影响因子：
6.9
作者：
Kendler, KS;Gardner, CO
通讯作者：
Gardner, CO
影响因子：
25
作者：
Hoischen, Alexander;Krumm, Niklas;Eichler, Evan E.
通讯作者：
Eichler, Evan E.