• 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

long-read-tools.org:一个用于长读测序数据的分析方法的交互式目录。

long-read-tools.org: an interactive catalogue of analysis methods for long-read sequencing data.

机构信息

Epigenetics and Development Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia.

Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC 3052, Australia.

出版信息

Gigascience. 2021 Feb 16;10(2). doi: 10.1093/gigascience/giab003.

DOI:10.1093/gigascience/giab003
PMID:33590862
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7931822/
Abstract

BACKGROUND

The data produced by long-read third-generation sequencers have unique characteristics compared to short-read sequencing data, often requiring tailored analysis tools for tasks ranging from quality control to downstream processing. The rapid growth in software that addresses these challenges for different genomics applications is difficult to keep track of, which makes it hard for users to choose the most appropriate tool for their analysis goal and for developers to identify areas of need and existing solutions to benchmark against.

FINDINGS

We describe the implementation of long-read-tools.org, an open-source database that organizes the rapidly expanding collection of long-read data analysis tools and allows its exploration through interactive browsing and filtering. The current database release contains 478 tools across 32 categories. Most tools are developed in Python, and the most frequent analysis tasks include base calling, de novo assembly, error correction, quality checking/filtering, and isoform detection, while long-read single-cell data analysis and transcriptomics are areas with the fewest tools available.

CONCLUSION

Continued growth in the application of long-read sequencing in genomics research positions the long-read-tools.org database as an essential resource that allows researchers to keep abreast of both established and emerging software to help guide the selection of the most relevant tool for their analysis needs.

摘要

背景

与短读测序数据相比,长读第三代测序仪产生的数据具有独特的特征,通常需要针对从质量控制到下游处理等各种任务定制分析工具。针对不同基因组学应用解决这些挑战的软件迅速增长,很难跟踪,这使得用户难以选择最适合其分析目标的工具,也使得开发人员难以确定需求领域和现有的基准解决方案。

发现

我们描述了 long-read-tools.org 的实现,这是一个开源数据库,它组织了快速扩展的长读数据分析工具集合,并允许通过交互式浏览和筛选来探索这些工具。当前数据库版本包含 32 个类别中的 478 个工具。大多数工具都是用 Python 开发的,最常见的分析任务包括碱基调用、从头组装、错误纠正、质量检查/过滤和异构体检测,而长读单细胞数据分析和转录组学是可用工具最少的领域。

结论

长读测序在基因组学研究中的应用不断增长,使得 long-read-tools.org 数据库成为一个必不可少的资源,使研究人员能够跟上已建立和新兴软件的步伐,帮助指导他们选择最适合其分析需求的工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d9/7931822/2e4c27279592/giab003fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d9/7931822/2477ae1ee4d5/giab003fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d9/7931822/739b114a215c/giab003fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d9/7931822/2e4c27279592/giab003fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d9/7931822/2477ae1ee4d5/giab003fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d9/7931822/739b114a215c/giab003fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d9/7931822/2e4c27279592/giab003fig3.jpg

相似文献

1
long-read-tools.org: an interactive catalogue of analysis methods for long-read sequencing data.long-read-tools.org:一个用于长读测序数据的分析方法的交互式目录。
Gigascience. 2021 Feb 16;10(2). doi: 10.1093/gigascience/giab003.
2
Opportunities and challenges in long-read sequencing data analysis.长读测序数据分析中的机遇与挑战。
Genome Biol. 2020 Feb 7;21(1):30. doi: 10.1186/s13059-020-1935-5.
3
NanoGalaxy: Nanopore long-read sequencing data analysis in Galaxy.NanoGalaxy:Galaxy 中的纳米孔长读测序数据分析。
Gigascience. 2020 Oct 17;9(10). doi: 10.1093/gigascience/giaa105.
4
Evaluating long-read de novo assembly tools for eukaryotic genomes: insights and considerations.评估真核生物基因组的长读长从头组装工具:见解与考虑。
Gigascience. 2022 Dec 28;12. doi: 10.1093/gigascience/giad100. Epub 2023 Nov 24.
5
A comprehensive evaluation of long read error correction methods.长读错误纠正方法的综合评价。
BMC Genomics. 2020 Dec 21;21(Suppl 6):889. doi: 10.1186/s12864-020-07227-0.
6
Nanopore sequencing technology and tools for genome assembly: computational analysis of the current state, bottlenecks and future directions.纳米孔测序技术和基因组组装工具:当前状态、瓶颈和未来方向的计算分析。
Brief Bioinform. 2019 Jul 19;20(4):1542-1559. doi: 10.1093/bib/bby017.
7
Benchmarking reveals superiority of deep learning variant callers on bacterial nanopore sequence data.基准测试显示深度学习变异调用程序在细菌纳米孔测序数据上的优越性。
Elife. 2024 Oct 10;13:RP98300. doi: 10.7554/eLife.98300.
8
NanoSim: nanopore sequence read simulator based on statistical characterization.NanoSim:基于统计特征的纳米孔序列读取模拟器。
Gigascience. 2017 Apr 1;6(4):1-6. doi: 10.1093/gigascience/gix010.
9
MAECI: A pipeline for generating consensus sequence with nanopore sequencing long-read assembly and error correction.MAECI:一种使用纳米孔测序长读段组装和纠错生成共识序列的流水线。
PLoS One. 2022 May 20;17(5):e0267066. doi: 10.1371/journal.pone.0267066. eCollection 2022.
10
DNA methylation-calling tools for Oxford Nanopore sequencing: a survey and human epigenome-wide evaluation.用于牛津纳米孔测序的 DNA 甲基化调用工具:调查和人类表观基因组全评估。
Genome Biol. 2021 Oct 18;22(1):295. doi: 10.1186/s13059-021-02510-z.

引用本文的文献

1
Quantitative isoform profiling using deep coverage long-read RNA sequencing across early endothelial differentiation.使用深度覆盖长读长RNA测序对早期内皮细胞分化进行定量异构体分析。
bioRxiv. 2025 Jun 2:2025.05.30.656561. doi: 10.1101/2025.05.30.656561.
2
Investigating RNA dynamics from single molecule transcriptomes.从单分子转录组研究RNA动态变化。
Trends Genet. 2025 Jun 4. doi: 10.1016/j.tig.2025.05.001.
3
Long-Read Sequencing for the Rapid Response to Infectious Diseases Outbreaks.用于传染病爆发快速响应的长读长测序

本文引用的文献

1
Long-read human genome sequencing and its applications.长读长基因组测序及其应用。
Nat Rev Genet. 2020 Oct;21(10):597-614. doi: 10.1038/s41576-020-0236-x. Epub 2020 Jun 5.
2
Structural variation in the sequencing era.测序时代的结构变异。
Nat Rev Genet. 2020 Mar;21(3):171-189. doi: 10.1038/s41576-019-0180-9. Epub 2019 Nov 15.
3
Long-read sequencing for rare human genetic diseases.长读测序在罕见人类遗传疾病中的应用。
Curr Clin Microbiol Rep. 2025;12(1):10. doi: 10.1007/s40588-025-00247-y. Epub 2025 May 15.
4
Quality assessment of long read data in multisample lrRNA-seq experiments using SQANTI-reads.使用SQANTI-reads对多样本长读长RNA测序实验中的长读长数据进行质量评估。
Genome Res. 2025 Apr 14;35(4):987-998. doi: 10.1101/gr.280021.124.
5
NAVIP: Unraveling the influence of neighboring small sequence variants on functional impact prediction.NAVIP:揭示相邻小序列变异对功能影响预测的影响
PLoS Comput Biol. 2025 Feb 18;21(2):e1012732. doi: 10.1371/journal.pcbi.1012732. eCollection 2025 Feb.
6
Detecting gene expression in Caenorhabditis elegans.检测秀丽隐杆线虫中的基因表达。
Genetics. 2025 Jan 8;229(1):1-108. doi: 10.1093/genetics/iyae167.
7
SQANTI-reads: a tool for the quality assessment of long read data in multi-sample lrRNA-seq experiments.SQANTI-reads:一种用于多样本长读长核糖体RNA测序实验中长读长数据质量评估的工具。
bioRxiv. 2024 Sep 17:2024.08.23.609463. doi: 10.1101/2024.08.23.609463.
8
Improving Bacterial Metagenomic Research through Long-Read Sequencing.通过长读长测序改进细菌宏基因组学研究
Microorganisms. 2024 May 4;12(5):935. doi: 10.3390/microorganisms12050935.
9
The Application of Long-Read Sequencing to Cancer.长读长测序在癌症中的应用
Cancers (Basel). 2024 Mar 25;16(7):1275. doi: 10.3390/cancers16071275.
10
Long read sequencing on its way to the routine diagnostics of genetic diseases.长读长测序正迈向遗传性疾病的常规诊断。
Front Genet. 2024 Mar 6;15:1374860. doi: 10.3389/fgene.2024.1374860. eCollection 2024.
J Hum Genet. 2020 Jan;65(1):11-19. doi: 10.1038/s10038-019-0671-8. Epub 2019 Sep 27.
4
A new era of long-read sequencing for cancer genomics.癌症基因组学的长读测序新纪元。
J Hum Genet. 2020 Jan;65(1):3-10. doi: 10.1038/s10038-019-0658-5. Epub 2019 Sep 2.
5
Assembly of long, error-prone reads using repeat graphs.使用重复图组装长的、易错的读取。
Nat Biotechnol. 2019 May;37(5):540-546. doi: 10.1038/s41587-019-0072-8. Epub 2019 Apr 1.
6
Exploring the single-cell RNA-seq analysis landscape with the scRNA-tools database.探索单细胞 RNA-seq 分析图谱与 scRNA-tools 数据库。
PLoS Comput Biol. 2018 Jun 25;14(6):e1006245. doi: 10.1371/journal.pcbi.1006245. eCollection 2018 Jun.
7
Long reads: their purpose and place.长读序列:它们的用途和位置。
Hum Mol Genet. 2018 Aug 1;27(R2):R234-R241. doi: 10.1093/hmg/ddy177.
8
SQANTI: extensive characterization of long-read transcript sequences for quality control in full-length transcriptome identification and quantification.SQANTI:用于全长转录组鉴定和定量的长读转录序列的广泛特征化,以进行质量控制。
Genome Res. 2018 Mar 1;28(3):396-411. doi: 10.1101/gr.222976.117.
9
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.单分子实时 (SMRT) 测序崭露头角:在医学诊断中的应用和用途。
Nucleic Acids Res. 2018 Mar 16;46(5):2159-2168. doi: 10.1093/nar/gky066.
10
Evaluation of tools for long read RNA-seq splice-aware alignment.长读 RNA-seq 剪接感知比对工具评估。
Bioinformatics. 2018 Mar 1;34(5):748-754. doi: 10.1093/bioinformatics/btx668.