NGS-pipe：一个灵活、易于扩展且高度可配置的 NGS 分析框架。
NGS-pipe: a flexible, easily extendable and highly configurable framework for NGS analysis.
机构信息
Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.
SIB Swiss Institute of Bioinformatics, Basel, Switzerland.
出版信息
Bioinformatics. 2018 Jan 1;34(1):107-108. doi: 10.1093/bioinformatics/btx540.
MOTIVATION
Next-generation sequencing is now an established method in genomics, and massive amounts of sequencing data are being generated on a regular basis. Analysis of the sequencing data is typically performed by lab-specific in-house solutions, but the agreement of results from different facilities is often small. General standards for quality control, reproducibility and documentation are missing.
RESULTS
We developed NGS-pipe, a flexible, transparent and easy-to-use framework for the design of pipelines to analyze whole-exome, whole-genome and transcriptome sequencing data. NGS-pipe facilitates the harmonization of genomic data analysis by supporting quality control, documentation, reproducibility, parallelization and easy adaptation to other NGS experiments.
AVAILABILITY AND IMPLEMENTATION
https://github.com/cbg-ethz/NGS-pipe.
CONTACT
动机
下一代测序技术现在已成为基因组学中的一种既定方法，并且定期会产生大量的测序数据。测序数据的分析通常由实验室特定的内部解决方案执行，但来自不同设施的结果的一致性通常很小。缺乏通用的质量控制、可重复性和文档编制标准。
结果
我们开发了 NGS-pipe，这是一个灵活、透明且易于使用的框架，用于设计用于分析全外显子组、全基因组和转录组测序数据的管道。NGS-pipe 通过支持质量控制、文档编制、可重复性、并行化以及轻松适应其他 NGS 实验，促进了基因组数据分析的协调一致。
可用性和实现
https://github.com/cbg-ethz/NGS-pipe。
联系人
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