H3AGWAS：全基因组关联研究的便携式工作流程。
H3AGWAS: a portable workflow for genome wide association studies.
机构信息
Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.
HPCBio, Roy J. Carver Biotechnology Center, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
出版信息
BMC Bioinformatics. 2022 Nov 19;23(1):498. doi: 10.1186/s12859-022-05034-w.
BACKGROUND
Genome-wide association studies (GWAS) are a powerful method to detect associations between variants and phenotypes. A GWAS requires several complex computations with large data sets, and many steps may need to be repeated with varying parameters. Manual running of these analyses can be tedious, error-prone and hard to reproduce.
RESULTS
The H3AGWAS workflow from the Pan-African Bioinformatics Network for H3Africa is a powerful, scalable and portable workflow implementing pre-association analysis, implementation of various association testing methods and post-association analysis of results.
CONCLUSIONS
The workflow is scalable-laptop to cluster to cloud (e.g., SLURM, AWS Batch, Azure). All required software is containerised and can run under Docker or Singularity.
背景
全基因组关联研究（GWAS）是一种检测变异体和表型之间关联的强大方法。GWAS 需要对大型数据集进行多次复杂的计算，并且许多步骤可能需要根据不同的参数进行重复。手动运行这些分析可能会很繁琐、容易出错且难以重现。
结果
来自 H3Africa 泛非生物信息学网络的 H3AGWAS 工作流程是一种强大、可扩展且可移植的工作流程，它实现了预关联分析、各种关联测试方法的实施以及结果的后关联分析。
结论
该工作流程具有可扩展性——从笔记本电脑到集群再到云（例如，SLURM、AWS Batch、Azure）。所有必需的软件都已容器化，可以在 Docker 或 Singularity 下运行。
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