GeniePool:基于云数据湖架构的基因组数据库与相应的注释样本
Noam Hadar1,2, Grisha Weintraub3, Ehud Gudes3
1The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
概括
GeniePool提供了从序列读取档案 (SRA) 获取人类基因组和表型数据的简单访问. 这一新的Web服务和API简化了对临床和研究应用的下一代测序 (NGS) 数据的查询.
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.
- 数据科学数据科学数据科学
背景情况:
- 越来越多的基因组数据流入需要综合的表型相关性.
- 现有的数据库缺乏简单的存储和可访问的组合基因型-表型信息.
- 序列读取档案 (SRA) 包含了大量的下一代测序 (NGS) 数据,但普通用户无法访问.
研究的目的:
- 创建一个可访问的平台,从SRA查询人类NGS数据和相关属性.
- 为临床医生和研究人员提供用户友好的Web服务和API.
- 通过整合表型数据来克服现有的基因组数据库的局限性.
主要方法:
- 使用SRAtoolkit开发了一个管道,从SRA下载原始人类NGS数据.
- 使用GATK管道进行预处理的数据.
- 在云数据湖中存储数据,通过REST API和网站进行高效访问.
主要成果:
- 生成了GeniePool,这是一个用于查询SRA的NGS数据的Web服务和API.
- 允许直接访问关于样本和相关研究的信息.
- 与现有数据库相比,为临床和研究用途提供了显著的优势.
结论:
- GeniePool是一个多用途工具,利用数据湖基础设施用于各种临床和研究应用.
- 该平台提供了一种简单而直观的方式来探索日常临床实践和研究努力的元数据.
- GeniePool提高了SRA数据对科学界的有用性.
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