High-throughput microbial population genomics using the Cortex variation assembler.

SUMMARY: We have developed a software package, Cortex, designed for the analysis of genetic variation by de novo assembly of multiple samples. This allows direct comparison of samples without using a reference genome as intermediate and incorporates discovery and genotyping of single-nucleotide poly...

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Main Authors: Iqbal, Z, Turner, I, Mcvean, G
Format: Journal article
Language:English
Published: Oxford University Press 2013
Subjects:
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author Iqbal, Z
Turner, I
Mcvean, G
author_facet Iqbal, Z
Turner, I
Mcvean, G
author_sort Iqbal, Z
collection OXFORD
description SUMMARY: We have developed a software package, Cortex, designed for the analysis of genetic variation by de novo assembly of multiple samples. This allows direct comparison of samples without using a reference genome as intermediate and incorporates discovery and genotyping of single-nucleotide polymorphisms, indels and larger events in a single framework. We introduce pipelines which simplify the analysis of microbial samples and increase discovery power; these also enable the construction of a graph of known sequence and variation in a species, against which new samples can be compared rapidly. We demonstrate the ease-of-use and power by reproducing the results of studies using both long and short reads. AVAILABILITY: http://cortexassembler.sourceforge.net (GPLv3 license). CONTACT: zam@well.ox.ac.uk, mcvean@well.ox.ac.uk SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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spelling oxford-uuid:c7b57beb-3bb3-498b-af45-caca31f1b3612022-03-27T06:47:02ZHigh-throughput microbial population genomics using the Cortex variation assembler.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:c7b57beb-3bb3-498b-af45-caca31f1b361Bioinformatics (biochemistry)EnglishSymplectic Elements at OxfordOxford University Press2013Iqbal, ZTurner, IMcvean, GSUMMARY: We have developed a software package, Cortex, designed for the analysis of genetic variation by de novo assembly of multiple samples. This allows direct comparison of samples without using a reference genome as intermediate and incorporates discovery and genotyping of single-nucleotide polymorphisms, indels and larger events in a single framework. We introduce pipelines which simplify the analysis of microbial samples and increase discovery power; these also enable the construction of a graph of known sequence and variation in a species, against which new samples can be compared rapidly. We demonstrate the ease-of-use and power by reproducing the results of studies using both long and short reads. AVAILABILITY: http://cortexassembler.sourceforge.net (GPLv3 license). CONTACT: zam@well.ox.ac.uk, mcvean@well.ox.ac.uk SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
spellingShingle Bioinformatics (biochemistry)
Iqbal, Z
Turner, I
Mcvean, G
High-throughput microbial population genomics using the Cortex variation assembler.
title High-throughput microbial population genomics using the Cortex variation assembler.
title_full High-throughput microbial population genomics using the Cortex variation assembler.
title_fullStr High-throughput microbial population genomics using the Cortex variation assembler.
title_full_unstemmed High-throughput microbial population genomics using the Cortex variation assembler.
title_short High-throughput microbial population genomics using the Cortex variation assembler.
title_sort high throughput microbial population genomics using the cortex variation assembler
topic Bioinformatics (biochemistry)
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