Celeste:一个基于云的基因组学基础设施,具有适合人口规模测序项目的变异调用管道,适合人口规模测序项目
概括
开源云架构Celeste成功地为我们所有人研究计划分析了大规模的基因组数据. 这种可扩展的基础设施增强了全基因组测序分析,使各种研究倡议成为可能.
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.
- 云计算 云计算 云计算 云计算
背景情况:
- 我们所有人的研究计划是一个主要的倡议,从超过一百万个不同个体中生成遗传数据.
- 该计划将广泛的遗传数据与纵向健康信息相结合,以创建新的研究平台.
- Celeste是一个开源的云架构,旨在用于大规模的基因组学工作流.
研究的目的:
- 描述Celeste的设计和实施,这是基因组学云架构.
- 为了证明Celeste在分析Petabyte的基因组数据方面的能力,为我们所有人的研究计划.
- 为大规模测序工作提供可扩展和弹性基础设施.
主要方法:
- 利用无服务器技术和容器编排来进行数据管理.
- 在亚马逊网络服务 (AWS) 上实施可扩展的云架构.
- 调整和调整变种呼叫管道以获得临床意义和准确性.
主要成果:
- 塞莱斯特分析了大量的基因组数据,每月处理多达9000个全基因组测序样本.
- 在12个月内,该系统协调了超过180万个生物信息学,质量控制和临床报告工作.
- 优化的变异调用管道改善了临床上显著变异的精度和准确性.
结论:
- 塞莱斯特在整个基因组测序分析的周转时间,可扩展性,安全性和存储方面提供了显著的改进.
- Celeste框架为人口规模测序提供了一种协调的管道标准,以满足临床要求.
- Celeste可以作为GitHub上的AWS部署,包括命令行参数和软件容器.
相关概念视频
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03:00Next-generation Sequencing
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Next-Generation Sequencing Methods
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03:21RNA-seq
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