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nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline

A tool for conducting Genome-Wide Association Study (GWAS) in a systematic, automated and reproducible manner is overdue. We developed an automated GWAS pipeline by combining multiple analysis tools – including bcftools, vcftools, the R packages SNPRelate/GENESIS/GMMAT and ANNOVAR – through Nextflow...

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Detalles Bibliográficos
Autores principales: Song, Zeyuan, Gurinovich, Anastasia, Federico, Anthony, Monti, Stefano, Sebastiani, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9137404/
https://www.ncbi.nlm.nih.gov/pubmed/35647481
http://dx.doi.org/10.21105/joss.02957
Descripción
Sumario:A tool for conducting Genome-Wide Association Study (GWAS) in a systematic, automated and reproducible manner is overdue. We developed an automated GWAS pipeline by combining multiple analysis tools – including bcftools, vcftools, the R packages SNPRelate/GENESIS/GMMAT and ANNOVAR – through Nextflow, which is a portable, flexible, and reproducible reactive workflow framework for developing pipelines. The GWAS pipeline integrates the steps of data quality control and assessment and genetic association analyses, including analysis of cross-sectional and longitudinal studies with either single variants or gene-based tests, into a unified analysis workflow. The pipeline is implemented in Nextflow, dependencies are distributed through Docker, and the code is publicly available on Github.