Prioritization of neurodevelopmental disease genes by discovery of new mutations.
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
复制标题
DOI：
10.1038/nn.3703
复制
发表时间：
2014-06
影响因子：
25
通讯作者：
Eichler, Evan E.
中科院分区：
文献类型：
--
作者：
Hoischen, Alexander;Krumm, Niklas;Eichler, Evan E.
基因组测序技术的进步已经开始彻底改变神经遗传学，使人们能够更好地理解全谱遗传变异与疾病的关系。对自闭症谱系障碍、智力障碍、癫痫和精神分裂症患者的数百至数千个样本进行外显子组测序，提供了强有力的证据，证明从头事件和基因破坏事件的重要性。现在有数百个新的候选基因和靶向重测序技术，可以以高特异性和敏感性筛选数以万计的个体中的数十个基因。寻找哪些基因的决定取决于许多因素，包括复发、与致病拷贝数变异重叠的先前证据、蛋白质内突变的位置、健康个体中的突变负担以及候选基因在疾病相关蛋白质网络中的成员资格。我们讨论这些新兴的基因优先级标准及其对神经科学领域的潜在影响。
Advances in genome sequencing technologies have begun to revolutionize neurogenetics allowing the full spectrum of genetic variation to be better understood in relationship to disease. Exome sequencing of hundreds to thousands of samples from patients with autism spectrum disorder, intellectual disability, epilepsy, and schizophrenia provide strong evidence of the importance of de novo and gene-disruptive events. There are now several hundred new candidate genes and targeted resequencing technologies that allow screening of dozens of genes in tens of thousands of individuals with high specificity and sensitivity. The decision of which genes to pursue depends on numerous factors including recurrence, prior evidence of overlap with pathogenic copy number variants, the position of the mutation within the protein, the mutational burden among healthy individuals, and membership of the candidate gene within disease-implicated protein networks. We discuss these emerging criteria for gene prioritization and the potential impact on the field of neuroscience.
登录
查看更多内容
影响因子：
3.5
作者：
Banka, S.;Howard, E.;Donnai, D.
通讯作者：
Donnai, D.
影响因子：
30.8
作者：
Hoischen, Alexander;van Bon, Bregje W. M.;Veltman, Joris A.
通讯作者：
Veltman, Joris A.
影响因子：
9.8
作者：
Gibson, William T.;Hood, Rebecca L.;Jones, Steven J. M.
通讯作者：
Jones, Steven J. M.
影响因子：
7
作者：
Hiatt JB;Pritchard CC;Salipante SJ;O'Roak BJ;Shendure J
通讯作者：
Shendure J
影响因子：
4.4
作者：
Carter H;Douville C;Stenson PD;Cooper DN;Karchin R
通讯作者：
Karchin R