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Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

机译:神经疾病的下一代测序技术:重新定义临床和分子关联

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摘要

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.
机译:下一代测序技术的发展已使人们能够鉴定人类遗传学中的几个新基因和遗传因素。这些技术的应用的共同结果揭示了已知疾病基因突变的意外表现。在这篇综述中,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,并讨论了孟德尔与复杂神经系统疾病之间的界面,特别关注多效性事件。

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