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H3AGWAS: a portable workflow for genome wide association studies

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...

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Detalles Bibliográficos
Autores principales: Brandenburg, Jean-Tristan, Clark, Lindsay, Botha, Gerrit, Panji, Sumir, Baichoo, Shakuntala, Fields, Christopher, Hazelhurst, Scott
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9675212/
https://www.ncbi.nlm.nih.gov/pubmed/36402955
http://dx.doi.org/10.1186/s12859-022-05034-w
Descripción
Sumario: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.