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GAML: genome assembly by maximum likelihood

BACKGROUND: Resolution of repeats and scaffolding of shorter contigs are critical parts of genome assembly. Modern assemblers usually perform such steps by heuristics, often tailored to a particular technology for producing paired or long reads. RESULTS: We propose a new framework that allows system...

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Detalles Bibliográficos
Autores principales: Boža, Vladimír, Brejová, Broňa, Vinař, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454275/
https://www.ncbi.nlm.nih.gov/pubmed/26042154
http://dx.doi.org/10.1186/s13015-015-0052-6
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author Boža, Vladimír
Brejová, Broňa
Vinař, Tomáš
author_facet Boža, Vladimír
Brejová, Broňa
Vinař, Tomáš
author_sort Boža, Vladimír
collection PubMed
description BACKGROUND: Resolution of repeats and scaffolding of shorter contigs are critical parts of genome assembly. Modern assemblers usually perform such steps by heuristics, often tailored to a particular technology for producing paired or long reads. RESULTS: We propose a new framework that allows systematic combination of diverse sequencing datasets into a single assembly. We achieve this by searching for an assembly with the maximum likelihood in a probabilistic model capturing error rate, insert lengths, and other characteristics of the sequencing technology used to produce each dataset. We have implemented a prototype genome assembler GAML that can use any combination of insert sizes with Illumina or 454 reads, as well as PacBio reads. Our experiments show that we can assemble short genomes with N50 sizes and error rates comparable to ALLPATHS-LG or Cerulean. While ALLPATHS-LG and Cerulean require each a specific combination of datasets, GAML works on any combination. CONCLUSIONS: We have introduced a new probabilistic approach to genome assembly and demonstrated that this approach can lead to superior results when used to combine diverse set of datasets from different sequencing technologies. Data and software is available at http://compbio.fmph.uniba.sk/gaml.
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spelling pubmed-44542752015-06-04 GAML: genome assembly by maximum likelihood Boža, Vladimír Brejová, Broňa Vinař, Tomáš Algorithms Mol Biol Research BACKGROUND: Resolution of repeats and scaffolding of shorter contigs are critical parts of genome assembly. Modern assemblers usually perform such steps by heuristics, often tailored to a particular technology for producing paired or long reads. RESULTS: We propose a new framework that allows systematic combination of diverse sequencing datasets into a single assembly. We achieve this by searching for an assembly with the maximum likelihood in a probabilistic model capturing error rate, insert lengths, and other characteristics of the sequencing technology used to produce each dataset. We have implemented a prototype genome assembler GAML that can use any combination of insert sizes with Illumina or 454 reads, as well as PacBio reads. Our experiments show that we can assemble short genomes with N50 sizes and error rates comparable to ALLPATHS-LG or Cerulean. While ALLPATHS-LG and Cerulean require each a specific combination of datasets, GAML works on any combination. CONCLUSIONS: We have introduced a new probabilistic approach to genome assembly and demonstrated that this approach can lead to superior results when used to combine diverse set of datasets from different sequencing technologies. Data and software is available at http://compbio.fmph.uniba.sk/gaml. BioMed Central 2015-06-03 /pmc/articles/PMC4454275/ /pubmed/26042154 http://dx.doi.org/10.1186/s13015-015-0052-6 Text en © Boža et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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 Research
Boža, Vladimír
Brejová, Broňa
Vinař, Tomáš
GAML: genome assembly by maximum likelihood
title GAML: genome assembly by maximum likelihood
title_full GAML: genome assembly by maximum likelihood
title_fullStr GAML: genome assembly by maximum likelihood
title_full_unstemmed GAML: genome assembly by maximum likelihood
title_short GAML: genome assembly by maximum likelihood
title_sort gaml: genome assembly by maximum likelihood
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454275/
https://www.ncbi.nlm.nih.gov/pubmed/26042154
http://dx.doi.org/10.1186/s13015-015-0052-6
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