RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes

Background. Next-generation sequencing technologies are now producing multiple times the genome size in total reads from a single experiment. This is enough information to reconstruct at least some of the differences between the individual genome studied in the experiment and the reference genome of...

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Main Authors: Krisztian Buza, Bartek Wilczynski, Norbert Dojer
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2015/563482
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author Krisztian Buza
Bartek Wilczynski
Norbert Dojer
author_facet Krisztian Buza
Bartek Wilczynski
Norbert Dojer
author_sort Krisztian Buza
collection DOAJ
description Background. Next-generation sequencing technologies are now producing multiple times the genome size in total reads from a single experiment. This is enough information to reconstruct at least some of the differences between the individual genome studied in the experiment and the reference genome of the species. However, in most typical protocols, this information is disregarded and the reference genome is used. Results. We provide a new approach that allows researchers to reconstruct genomes very closely related to the reference genome (e.g., mutants of the same species) directly from the reads used in the experiment. Our approach applies de novo assembly software to experimental reads and so-called pseudoreads and uses the resulting contigs to generate a modified reference sequence. In this way, it can very quickly, and at no additional sequencing cost, generate new, modified reference sequence that is closer to the actual sequenced genome and has a full coverage. In this paper, we describe our approach and test its implementation called RECORD. We evaluate RECORD on both simulated and real data. We made our software publicly available on sourceforge. Conclusion. Our tests show that on closely related sequences RECORD outperforms more general assisted-assembly software.
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spelling doaj-art-78e3fa63cbd04c82ae6ed7397497c1ef2025-08-20T03:35:11ZengWileyInternational Journal of Genomics2314-436X2314-43782015-01-01201510.1155/2015/563482563482RECORD: Reference-Assisted Genome Assembly for Closely Related GenomesKrisztian Buza0Bartek Wilczynski1Norbert Dojer2Faculty of Mathematics, Informatics and Mechanics (MIM), University of Warsaw, Banacha 2, 02-097 Warsaw, PolandFaculty of Mathematics, Informatics and Mechanics (MIM), University of Warsaw, Banacha 2, 02-097 Warsaw, PolandFaculty of Mathematics, Informatics and Mechanics (MIM), University of Warsaw, Banacha 2, 02-097 Warsaw, PolandBackground. Next-generation sequencing technologies are now producing multiple times the genome size in total reads from a single experiment. This is enough information to reconstruct at least some of the differences between the individual genome studied in the experiment and the reference genome of the species. However, in most typical protocols, this information is disregarded and the reference genome is used. Results. We provide a new approach that allows researchers to reconstruct genomes very closely related to the reference genome (e.g., mutants of the same species) directly from the reads used in the experiment. Our approach applies de novo assembly software to experimental reads and so-called pseudoreads and uses the resulting contigs to generate a modified reference sequence. In this way, it can very quickly, and at no additional sequencing cost, generate new, modified reference sequence that is closer to the actual sequenced genome and has a full coverage. In this paper, we describe our approach and test its implementation called RECORD. We evaluate RECORD on both simulated and real data. We made our software publicly available on sourceforge. Conclusion. Our tests show that on closely related sequences RECORD outperforms more general assisted-assembly software.http://dx.doi.org/10.1155/2015/563482
spellingShingle Krisztian Buza
Bartek Wilczynski
Norbert Dojer
RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes
International Journal of Genomics
title RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes
title_full RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes
title_fullStr RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes
title_full_unstemmed RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes
title_short RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes
title_sort record reference assisted genome assembly for closely related genomes
url http://dx.doi.org/10.1155/2015/563482
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AT bartekwilczynski recordreferenceassistedgenomeassemblyforcloselyrelatedgenomes
AT norbertdojer recordreferenceassistedgenomeassemblyforcloselyrelatedgenomes