• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

纳米孔测序对人类遗传学的潜在影响。

The potential impact of nanopore sequencing on human genetics.

作者信息

Loose Matthew W

机构信息

School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK.

出版信息

Hum Mol Genet. 2017 Oct 1;26(R2):R202-R207. doi: 10.1093/hmg/ddx287.

DOI:10.1093/hmg/ddx287
PMID:28977449
Abstract

Nanopore sequencing has been available to researchers for a little over 3 years. Recently, the milestone of sequencing and assembling a human genome on this platform was achieved for the first time. Significant improvements to the platform in yield and accuracy, coupled with higher throughput nanopore sequencers, mean that human genome sequencing at scale is now possible. Here, a brief recent history of the nanopore platform is provided, key papers and innovations are highlighted and some of the challenges for the future are discussed.

摘要

纳米孔测序技术已可供研究人员使用三年多一点的时间。最近,首次在该平台上实现了对人类基因组进行测序和组装的里程碑。该平台在产量和准确性方面的显著改进,再加上更高通量的纳米孔测序仪,意味着大规模的人类基因组测序现在成为可能。在此,本文提供了纳米孔平台的近期简要历史,突出了关键论文和创新成果,并讨论了未来的一些挑战。

相似文献

1
The potential impact of nanopore sequencing on human genetics.纳米孔测序对人类遗传学的潜在影响。
Hum Mol Genet. 2017 Oct 1;26(R2):R202-R207. doi: 10.1093/hmg/ddx287.
2
Enhancing nanopore adaptive sampling for PromethION using readfish at scale.使用readfish大规模增强PromethION的纳米孔自适应采样。
Genome Res. 2025 Apr 14;35(4):877-885. doi: 10.1101/gr.279329.124.
3
Nanopore Sequencing Techniques: A Comparison of the MinKNOW and the Alignator Sequencers.纳米孔测序技术:MinKNOW 和 Alignator 测序仪的比较。
Methods Mol Biol. 2023;2649:209-221. doi: 10.1007/978-1-0716-3072-3_10.
4
A Step-by-Step Guide to Sequencing and Assembly of Complete Bacterial Genomes Using the Oxford Nanopore MinION.使用 Oxford Nanopore MinION 对完整细菌基因组进行测序和组装的分步指南。
Methods Mol Biol. 2025;2866:31-43. doi: 10.1007/978-1-0716-4192-7_2.
5
Detection of DNA Modification Using Nanopore Sequencers.使用纳米孔测序仪检测 DNA 修饰。
Methods Mol Biol. 2023;2632:79-90. doi: 10.1007/978-1-0716-2996-3_6.
6
From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy.从扭曲到碱基对:提高纳米孔测序读取准确性的计算方法。
Genome Biol. 2018 Jul 13;19(1):90. doi: 10.1186/s13059-018-1462-9.
7
Nanopore Sequencing and Its Clinical Applications.纳米孔测序及其临床应用。
Methods Mol Biol. 2020;2204:13-32. doi: 10.1007/978-1-0716-0904-0_2.
8
Real-time selective sequencing using nanopore technology.使用纳米孔技术的实时选择性测序。
Nat Methods. 2016 Sep;13(9):751-4. doi: 10.1038/nmeth.3930. Epub 2016 Jul 25.
9
CmVCall: An automated and adjustable nanopore analysis pipeline for heteroplasmy detection of the control region in human mitochondrial genome.CmVCall:一种自动化和可调的纳米孔分析管道,用于检测人类线粒体基因组控制区的异质体。
Forensic Sci Int Genet. 2023 Nov;67:102930. doi: 10.1016/j.fsigen.2023.102930. Epub 2023 Aug 14.
10
Assembly methods for nanopore-based metagenomic sequencing: a comparative study.基于纳米孔的宏基因组测序的组装方法:一项比较研究。
Sci Rep. 2020 Aug 12;10(1):13588. doi: 10.1038/s41598-020-70491-3.

引用本文的文献

1
Characterizing Prion-Like Protein Aggregation: Emerging Nanopore-Based Approaches.朊病毒样蛋白聚集的表征:新兴的基于纳米孔的方法。
Small Methods. 2024 Dec;8(12):e2400058. doi: 10.1002/smtd.202400058. Epub 2024 Apr 21.
2
Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.第三代测序技术鉴定了两种导致中国人血红蛋白变异的罕见α-链变异。
Mol Genet Genomic Med. 2024 Jan;12(1):e2365. doi: 10.1002/mgg3.2365.
3
Genomic Sequencing to Diagnose Prosthetic Joint Infection in the Knee: A Case Report.
基因组测序诊断膝关节人工关节感染:一例报告
Cureus. 2023 May 9;15(5):e38788. doi: 10.7759/cureus.38788. eCollection 2023 May.
4
Critical length in long-read resequencing.长读长重测序中的关键长度
NAR Genom Bioinform. 2020 Jan 13;2(1):lqz027. doi: 10.1093/nargab/lqz027. eCollection 2020 Mar.
5
Portable sequencing, genomic data, and scale in global emerging infectious disease surveillance.便携式测序、基因组数据与全球新发传染病监测的规模
Geo. 2018 Jul-Dec;5(2):e00066. doi: 10.1002/geo2.66. Epub 2018 Dec 1.
6
RACS: rapid analysis of ChIP-Seq data for contig based genomes.RACS:基于连续基因组的 ChIP-Seq 数据的快速分析。
BMC Bioinformatics. 2019 Oct 29;20(1):533. doi: 10.1186/s12859-019-3100-2.
7
Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.牛津纳米孔 PromethION 测序人类基因组鉴定的结构变异。
Genome Res. 2019 Jul;29(7):1178-1187. doi: 10.1101/gr.244939.118. Epub 2019 Jun 11.
8
Uncovering Missing Heritability in Rare Diseases.揭示罕见疾病中的遗传缺失。
Genes (Basel). 2019 Apr 4;10(4):275. doi: 10.3390/genes10040275.
9
Molecular diagnostics in medical mycology.医学真菌学中的分子诊断。
Nat Commun. 2018 Dec 3;9(1):5135. doi: 10.1038/s41467-018-07556-5.
10
Clinical Impact of Genomic Information in Pediatric Leukemia.基因组信息在儿童白血病中的临床影响
Front Pediatr. 2017 Dec 14;5:263. doi: 10.3389/fped.2017.00263. eCollection 2017.