H3AGWAS: a portable workflow for genome wide association studies

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Abstract

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.

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Brandenburg, J. T., Clark, L., Botha, G., Panji, S., Baichoo, S., Fields, C., & Hazelhurst, S. (2022). H3AGWAS: a portable workflow for genome wide association studies. BMC Bioinformatics, 23(1). https://doi.org/10.1186/s12859-022-05034-w

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