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SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets

BACKGROUND: Next-generation sequencing (NGS) is now a commonplace tool for molecular characterisation of virtually any species of interest. Despite the ever-increasing use of NGS in laboratories worldwide, analysis of whole genome re-sequencing (WGS) datasets from start to finish remains nontrivial...

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Autores principales: Sarovich, Derek S, Price, Erin P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169827/
https://www.ncbi.nlm.nih.gov/pubmed/25201145
http://dx.doi.org/10.1186/1756-0500-7-618
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author Sarovich, Derek S
Price, Erin P
author_facet Sarovich, Derek S
Price, Erin P
author_sort Sarovich, Derek S
collection PubMed
description BACKGROUND: Next-generation sequencing (NGS) is now a commonplace tool for molecular characterisation of virtually any species of interest. Despite the ever-increasing use of NGS in laboratories worldwide, analysis of whole genome re-sequencing (WGS) datasets from start to finish remains nontrivial due to the fragmented nature of NGS software and the lack of experienced bioinformaticists in many research teams. FINDINGS: We describe SPANDx (Synergised Pipeline for Analysis of NGS Data in Linux), a new tool for high-throughput comparative analysis of haploid WGS datasets comprising one through thousands of genomes. SPANDx consolidates several well-validated, open-source packages into a single tool, mitigating the need to learn and manipulate individual NGS programs. SPANDx incorporates BWA for alignment of raw NGS reads against a reference genome or pan-genome, followed by data filtering, variant calling and annotation using Picard, GATK, SAMtools and SnpEff. BEDTools has also been included for genetic locus presence/absence (P/A) determination to easily visualise the core and accessory genomes. Additional SPANDx features include construction of error-corrected single-nucleotide polymorphism (SNP) and insertion-deletion matrices, and P/A matrices, to enable user-friendly visualisation of genetic variants. The SNP matrices generated using VCFtools and GATK are directly importable into PAUP*, PHYLIP or RAxML for downstream phylogenetic analysis. SPANDx has been developed to handle NGS data from Illumina, Ion Personal Genome Machine (PGM) and 454 platforms, and we demonstrate that it has comparable performance across Illumina MiSeq/HiSeq2000 and Ion PGM data. CONCLUSION: SPANDx is an all-in-one tool for comprehensive haploid WGS analysis. SPANDx is open source and is freely available at: http://sourceforge.net/projects/spandx/.
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spelling pubmed-41698272014-09-22 SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets Sarovich, Derek S Price, Erin P BMC Res Notes Technical Note BACKGROUND: Next-generation sequencing (NGS) is now a commonplace tool for molecular characterisation of virtually any species of interest. Despite the ever-increasing use of NGS in laboratories worldwide, analysis of whole genome re-sequencing (WGS) datasets from start to finish remains nontrivial due to the fragmented nature of NGS software and the lack of experienced bioinformaticists in many research teams. FINDINGS: We describe SPANDx (Synergised Pipeline for Analysis of NGS Data in Linux), a new tool for high-throughput comparative analysis of haploid WGS datasets comprising one through thousands of genomes. SPANDx consolidates several well-validated, open-source packages into a single tool, mitigating the need to learn and manipulate individual NGS programs. SPANDx incorporates BWA for alignment of raw NGS reads against a reference genome or pan-genome, followed by data filtering, variant calling and annotation using Picard, GATK, SAMtools and SnpEff. BEDTools has also been included for genetic locus presence/absence (P/A) determination to easily visualise the core and accessory genomes. Additional SPANDx features include construction of error-corrected single-nucleotide polymorphism (SNP) and insertion-deletion matrices, and P/A matrices, to enable user-friendly visualisation of genetic variants. The SNP matrices generated using VCFtools and GATK are directly importable into PAUP*, PHYLIP or RAxML for downstream phylogenetic analysis. SPANDx has been developed to handle NGS data from Illumina, Ion Personal Genome Machine (PGM) and 454 platforms, and we demonstrate that it has comparable performance across Illumina MiSeq/HiSeq2000 and Ion PGM data. CONCLUSION: SPANDx is an all-in-one tool for comprehensive haploid WGS analysis. SPANDx is open source and is freely available at: http://sourceforge.net/projects/spandx/. BioMed Central 2014-09-08 /pmc/articles/PMC4169827/ /pubmed/25201145 http://dx.doi.org/10.1186/1756-0500-7-618 Text en © Sarovich and Price; licensee BioMed Central Ltd. 2014 This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Technical Note
Sarovich, Derek S
Price, Erin P
SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets
title SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets
title_full SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets
title_fullStr SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets
title_full_unstemmed SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets
title_short SPANDx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets
title_sort spandx: a genomics pipeline for comparative analysis of large haploid whole genome re-sequencing datasets
topic Technical Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169827/
https://www.ncbi.nlm.nih.gov/pubmed/25201145
http://dx.doi.org/10.1186/1756-0500-7-618
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