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神经系统疾病的下一代测序:新希望还是新炒作?

Next generation sequencing for neurological diseases: new hope or new hype?

作者信息

Keogh M J, Chinnery P F

机构信息

Mitochondrial Research Group, Newcastle University, UK.

出版信息

Clin Neurol Neurosurg. 2013 Jul;115(7):948-53. doi: 10.1016/j.clineuro.2012.09.030. Epub 2012 Nov 30.

Abstract

Over the past year huge advances have been made in our ability to determine the genetic aetiology of many neurological diseases through the utilisation of next generation sequencing platforms. This technology is, on a daily basis, providing new breakthroughs in neurological disease. The aim of this article is to clearly describe the technological platforms, methods of data analysis, established breakthroughs, and potential future clinical and research applications of this innovative and exciting technique which has relevance to all those working within clinical neuroscience.

摘要

在过去的一年里,通过利用新一代测序平台,我们在确定许多神经疾病的遗传病因方面取得了巨大进展。这项技术每天都在神经疾病领域带来新的突破。本文旨在清晰地描述这项创新且令人兴奋的技术的技术平台、数据分析方法、已取得的突破以及未来潜在的临床和研究应用,这与所有从事临床神经科学工作的人员都息息相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d611/3694302/4de2bfca2354/gr1.jpg

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