STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis
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DOI：
10.1093/bioinformatics/btac272
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发表时间：
2022-04-20
期刊：
影响因子：
5.8
通讯作者：
Lin, Xihong
中科院分区：
文献类型：
--
作者：
Gaynor, Sheila M.;Westerman, Kenneth E.;Lin, Xihong
我们使用注释信息（STAAR）工作流描述语言（WDL）工作流开发了用于关联的变体集测试，以促进全基因组测序关联研究中的罕见变体的分析。WDL中编写的开放获取STAAR工作流程允许用户对基因中心和遗传区域方法进行罕见变异检测，从而实现全基因组、候选和条件分析。它将功能注释纳入STAAR方法中引入的工作流程中，以提高罕见变异分析能力。该工具是专门开发和优化的，可在基于云的平台上实施，如BioData Catalyst Powered by Terra。它为罕见变异分析提供了易于使用的功能，可以将其纳入详尽的全基因组测序分析管道。
We developed the variant-Set Test for Association using Annotation infoRmation (STAAR) workflow description language (WDL) workflow to facilitate the analysis of rare variants in whole genome sequencing association studies. The open-access STAAR workflow written in the WDL allows a user to perform rare variant testing for both gene-centric and genetic region approaches, enabling genome-wide, candidate and conditional analyses. It incorporates functional annotations into the workflow as introduced in the STAAR method in order to boost the rare variant analysis power. This tool was specifically developed and optimized to be implemented on cloud-based platforms such as BioData Catalyst Powered by Terra. It provides easy-to-use functionality for rare variant analysis that can be incorporated into an exhaustive whole genome sequencing analysis pipeline.