Patel Arpan, Belykh Evgenii, Miller Eric J, George Laeth L, Martirosyan Nikolay L, Byvaltsev Vadim A, Preul Mark C
Department of Neurosurgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA.
College of Medicine-Phoenix, University of Arizona, Phoenix, Arizona, USA.
Surg Neurol Int. 2018 Aug 10;9:157. doi: 10.4103/sni.sni_55_18. eCollection 2018.
Gene sequencing has played an integral role in the advancement and understanding of disease pathology and treatment. Although historically expensive and time consuming, new sequencing technologies improve our capability to obtain the genetic information in an accurate and timely manner. Within neurosurgery, gene sequencing is routinely used in the diagnosis and treatment of neurosurgical diseases, primarily for brain tumors. This paper reviews nanopore sequencing, an innovation utilized by MinION and outlines its potential use for neurosurgery.
A literature search was conducted for publications containing the keywords of Oxford MinION, nanopore sequencing, brain tumor, glioma, whole genome sequencing (WGS), epigenomics, molecular neuropathology, and next-generation sequencing (NGS). In total, 64 articles were selected and used for this review.
The Oxford MinION nanopore sequencing technology has had successful applications within clinical microbiology, human genome sequencing, and cancer genotyping across multiple specialties. Technical details, methodology, and current use of MinION sequencing are discussed through the prism of potential applications to solve neurosurgery-related scientific and diagnostic questions. The MinION device has proven to provide rapid and accurate reads with longer read lengths when compared with NGS. For applications within neurosurgery, the MinION device is capable of providing critical diagnostic information for central nervous system (CNS) tumors within a single day.
MinION provides rapid and accurate gene sequencing with better affordability and convenience compared with current NGS methods. Widespread success of the MinION nanopore sequencing technology in providing accurate, rapid, and convenient gene sequencing suggests a promising future within research laboratories and to improve care for neurosurgical patients.
基因测序在疾病病理学和治疗的进展与理解方面发挥了不可或缺的作用。尽管从历史上看，基因测序成本高昂且耗时，但新的测序技术提高了我们准确、及时获取遗传信息的能力。在神经外科领域，基因测序常规用于神经外科疾病的诊断和治疗，主要针对脑肿瘤。本文回顾了由MinION采用的纳米孔测序技术，并概述了其在神经外科中的潜在用途。
对包含牛津MinION、纳米孔测序、脑肿瘤、胶质瘤、全基因组测序（WGS）、表观基因组学、分子神经病理学和下一代测序（NGS）等关键词的出版物进行文献检索。总共筛选出64篇文章用于本综述。
牛津MinION纳米孔测序技术已成功应用于临床微生物学、人类基因组测序以及多个专业领域的癌症基因分型。通过解决神经外科相关科学和诊断问题的潜在应用视角，讨论了MinION测序的技术细节、方法和当前用途。与NGS相比，MinION设备已被证明能够提供快速、准确的读数，且读长更长。对于神经外科领域的应用，MinION设备能够在一天内为中枢神经系统（CNS）肿瘤提供关键的诊断信息。
与当前的NGS方法相比，MinION提供快速、准确的基因测序，且具有更好的可承受性和便利性。MinION纳米孔测序技术在提供准确、快速和便捷的基因测序方面取得的广泛成功表明，其在研究实验室以及改善神经外科患者护理方面有着广阔的前景。
