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RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes

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Tartalom: http://downloads.hindawi.com/journals/ijg/aa/563482.pdf
Archívum: MTA Könyvtár
Gyűjtemény: Status = Published

Type = Article
Cím:
RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes
Létrehozó:
Buza, Krisztián Antal
Wilczynski, Bartek
Dojer, Norbert
Dátum:
2015
Téma:
RZ Other systems of medicine / orvostudomány egyéb területei
Tartalmi leírás:
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.
Típus:
Article
PeerReviewed
Formátum:
text
Azonosító:
Buza, Krisztián Antal and Wilczynski, Bartek and Dojer, Norbert (2015) RECORD: Reference-Assisted Genome Assembly for Closely Related Genomes. International Journal of Genomics, 2015.
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