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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2021
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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. |
format | Online Article Text |
id | pubmed-9137404 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
record_format | MEDLINE/PubMed |
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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