神经疾病中的下一代测序技术：重新定义临床与分子关联
Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.
作者信息
Guerreiro Rita, Brás José, Hardy John, Singleton Andrew
机构信息
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK.
出版信息
Hum Mol Genet. 2014 Sep 15;23(R1):R47-53. doi: 10.1093/hmg/ddu203. Epub 2014 May 2.
Abstract
The development of next-generation sequencing technologies has allowed for the identification of several new genes and genetic factors in human genetics. Common results from the application of these technologies have revealed unexpected presentations for mutations in known disease genes. In this review, we summarize the major contributions of exome sequencing to the study of neurodegenerative disorders and other neurological conditions and discuss the interface between Mendelian and complex neurological diseases with a particular focus on pleiotropic events.
摘要
下一代测序技术的发展使得在人类遗传学中能够鉴定出多个新基因和遗传因素。应用这些技术的常见结果揭示了已知疾病基因中突变的意外表现。在本综述中，我们总结了外显子组测序对神经退行性疾病和其他神经系统疾病研究的主要贡献，并讨论孟德尔神经疾病和复杂神经疾病之间的交叉点，特别关注多效性事件。
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