{"title":"1D Genome Sequencing on the Oxford Nanopore MinION","authors":"Sara Goodwin, Robert Wappel, W. Richard McCombie","doi":"10.1002/cphg.39","DOIUrl":null,"url":null,"abstract":"<p>Today's short-read sequencing instruments can generate read lengths between 50 bp and 700 bp depending on the specific instrument. These high-throughput sequencing approaches have revolutionized genomic science, allowing hundreds of thousands of full genomes to be sequenced, and have become indispensable tools for many researchers. With greater insight has come the revelation that many genomes are much more complicated than originally thought and include many rearrangements and copy-number variations. Unfortunately, short-read sequencing technologies are not well suited for identifying many of these types of events. Long-read sequencing technologies can read contiguous fragments of DNA in excess of 10 kb and are much better suited for detecting large structural events. The newest long-read sequencing instrument is the MinION device from Oxford Nanopore. The rapid sequencing speed and low upfront instrument cost are features drawing interest in this device from the genomics community. This unit provides a representative protocol for carrying out human genome sequencing on the Oxford Nanopore MinION. © 2017 by John Wiley & Sons, Inc.</p>","PeriodicalId":40007,"journal":{"name":"Current Protocols in Human Genetics","volume":"94 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2017-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/cphg.39","citationCount":"7","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Protocols in Human Genetics","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cphg.39","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 7
Abstract
Today's short-read sequencing instruments can generate read lengths between 50 bp and 700 bp depending on the specific instrument. These high-throughput sequencing approaches have revolutionized genomic science, allowing hundreds of thousands of full genomes to be sequenced, and have become indispensable tools for many researchers. With greater insight has come the revelation that many genomes are much more complicated than originally thought and include many rearrangements and copy-number variations. Unfortunately, short-read sequencing technologies are not well suited for identifying many of these types of events. Long-read sequencing technologies can read contiguous fragments of DNA in excess of 10 kb and are much better suited for detecting large structural events. The newest long-read sequencing instrument is the MinION device from Oxford Nanopore. The rapid sequencing speed and low upfront instrument cost are features drawing interest in this device from the genomics community. This unit provides a representative protocol for carrying out human genome sequencing on the Oxford Nanopore MinION. © 2017 by John Wiley & Sons, Inc.
牛津纳米孔MinION的1D基因组测序
今天的短读测序仪器可以产生50 bp到700 bp之间的读长度,这取决于具体的仪器。这些高通量测序方法彻底改变了基因组科学,允许对数十万个全基因组进行测序,并已成为许多研究人员不可或缺的工具。随着更深入的了解,人们发现许多基因组比原来想象的要复杂得多,包括许多重排和拷贝数变异。不幸的是,短读测序技术并不适合识别许多这类事件。长读测序技术可以读取超过10kb的连续DNA片段,更适合于检测大型结构事件。最新的长读测序仪器是牛津纳米孔公司的MinION设备。快速的测序速度和较低的前期仪器成本吸引了基因组学社区对该设备的兴趣。该单元提供了在Oxford Nanopore MinION上进行人类基因组测序的代表性方案。©2017 by John Wiley &儿子,Inc。
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