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BioinformaticsBMC Bioinformatics
Peer-reviewed journal article

H3AGWAS : A portable workflow for Genome Wide Association Studies

Jean‐Tristan BrandenburgiD, Lindsay V. ClarkiD, Gerrit BothaiD, Sumir PanjiiD, Shakuntala BaichooiD, Christopher J. FieldsiD, Scott HazelhurstiD

Abstract

BackgroundGenome-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. ResultsThe 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 postassociation analysis of results. ConclusionsThe workflow is scalable -- laptop to cluster to cloud (e.g., SLURM, AWS Batch, Azure). All required software is containerised and can run under Docker on Singularity.

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02 /Specification & Classification

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