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Updated: Jun 13, 2025

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Published on: April 4, 2018

基因管道-DNA:一个全面的生殖系和体内基因组学Nextflow管道

Yash Patel, Chenghao Zhu, Takafumi N Yamaguchi

bioRxiv : the preprint server for biology

|September 16, 2024

概括

Metapipeline-DNA是一个新的Nextflow管道,可以自动化全面的DNA测序数据分析. 它处理原始读取功能检测和可视化,增强基因组研究可扩展性.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.
计算生物学计算生物学

背景情况:

DNA测序技术在价格,质量和吞吐量方面继续取得进步.
算法创新使得从测序数据中推断出各种基因组特征.
对核,线粒体,生殖系和体基因组的分析越来越复杂.

研究的目的:

开发一个自动化和可扩展的元管道,用于全面的DNA测序数据分析.
为了简化流程,从原始测序阅读到功能检测和可视化.
促进各种基因组特征的高规模和综合分析.

主要方法:

创建了metapipeline-DNA,一个可扩展的Nextflow元管道.
分析针对性和全基因组测序数据.
涵盖预处理,功能检测,质量控制和数据可视化.
结合了强大的软件工程实践,包括自动故障恢复和测试.
云兼容,高度可配置,用于子设置和优化.

主要成果:

Metapipeline-DNA自动化了广泛的基因组特征的分析.
该管道支持针对性和全基因组测序数据.
它通过自动恢复,测试和验证来确保可靠的分析.
促进全面和大规模的DNA测序数据分析.

结论:

Metapipeline-DNA为复杂的DNA测序数据分析提供了一个统一的,自动化的解决方案.
它的可扩展和可配置性质支持各种研究需求.
该管道提高了基因组研究的效率和可扩展性.

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相关概念视频

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...