H3AGWAS: a portable workflow for genome wide association studies

BMC Bioinform.(2022)

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摘要
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 H3A GWAS 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.
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关键词
Association testing,Docker,Genome-wide association study,Nextflow,Pipeline,Post-association analysis,Quality control,Singularity,Workflow
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