在谷歌云平台上快速NGS分析:性能基准和用户教程
Eugenio Franzoso1, Mariangela Santorsola1, Francesco Lescai1
1Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
Clinical and translational science
|November 19, 2025
概括
下一代测序 (NGS) 分析管道Sentieon和Parabricks在谷歌云平台 (GCP) 上进行了基准测试. 两者都为快速临床遗传测试提供了可比的性能,使先进的基因组工具可以在没有广泛的当地基础设施的情况下使用.
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.
- 临床诊断 临床诊断 临床诊断
背景情况:
- 下一代测序 (NGS) 的采用在临床环境中越来越多地用于遗传病理学诊断.
- 对于重症患者来说,快速分析至关重要,但NGS管道具有很高的计算需求.
- 像谷歌云平台 (GCP) 这样的云平台提供可扩展的解决方案,但实施可能很复杂.
研究的目的:
- 在GCP上的基准Sentieon DNASeq和Clara Parabricks生殖管道.
- 提供一个教程,用于在GCP上实现这些管道.
- 为基于云的NGS处理提供成本指导.
主要方法:
- 在GCP上对Sentieon和Parabricks进行基准测试,使用五个全外体序列 (WES) 和五个全基因组序列 (WGS) 样本.
- 运行时间,成本和资源利用的评估.
- 为GCP实施开发一个教程.
主要成果:
- 在GCP的NGS分析中,Sentieon和Parabricks的表现相似.
- 这两条管道都适用于基于云的快速基因组分析.
- 结果提供了对资源利用和成本效益的见解.
结论:
- 感觉和Parabricks是加快临床NGS分析GCP的有效解决方案.
- 基于云的NGS处理使医疗机构能够利用先进的基因组工具.
- 这项工作为生物信息学家简化了云计算的实施,并为医疗保健领导者提供了成本管理工具.
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