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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
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author Song, Zeyuan
Gurinovich, Anastasia
Federico, Anthony
Monti, Stefano
Sebastiani, Paola
author_facet Song, Zeyuan
Gurinovich, Anastasia
Federico, Anthony
Monti, Stefano
Sebastiani, Paola
author_sort Song, Zeyuan
collection PubMed
description 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.
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spelling pubmed-91374042022-05-27 nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline Song, Zeyuan Gurinovich, Anastasia Federico, Anthony Monti, Stefano Sebastiani, Paola J Open Source Softw Article 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. 2021 2021-03-02 /pmc/articles/PMC9137404/ /pubmed/35647481 http://dx.doi.org/10.21105/joss.02957 Text en https://creativecommons.org/licenses/by/4.0/Authors of papers retain copyright and release the work under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
spellingShingle Article
Song, Zeyuan
Gurinovich, Anastasia
Federico, Anthony
Monti, Stefano
Sebastiani, Paola
nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline
title nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline
title_full nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline
title_fullStr nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline
title_full_unstemmed nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline
title_short nf-gwas-pipeline: A Nextflow Genome-Wide Association Study Pipeline
title_sort nf-gwas-pipeline: a nextflow genome-wide association study pipeline
topic Article
url 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
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