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Repeat-aware evaluation of scaffolding tools

Mandric I., Knyazev S., Zelikovskij A. Z.
Bioinformatics
Vol.34, Issue15, P. 2530-2537
Опубликовано: 2018
Тип ресурса: Статья

DOI:10.1093/bioinformatics/bty131

Аннотация:
Summary: Genomic sequences are assembled into a variable, but large number of contigs that should be scaffolded (ordered and oriented) for facilitating comparative or functional analysis. Finding scaffolding is computationally challenging due to misassemblies, inconsistent coverage across the genome and long repeats. An accurate assessment of scaffolding tools should take into account multiple locations of the same contig on the reference scaffolding rather than matching a repeat to a single best location. This makes mapping of inferred scaffoldings onto the reference a computationally challenging problem. This paper formulates the repeat-aware scaffolding evaluation problem, which is to find a mapping of the inferred scaffolding onto the reference maximizing number of correct links and proposes a scalable algorithm capable of handling large wholegenome datasets. Our novel scaffolding validation framework has been applied to assess the most of state-of-the-art scaffolding tools on the
Ключевые слова:
article; documentation; genome; gold standard; simulation; validation process; algorithm; bacterium; contig mapping; DNA sequence; eukaryote; genetics; genome; genomics; human; nucleotide repeat; procedures; software; Algorithms; Bacteria; Contig Mapping; Eukaryota; Genome; Genomics; Humans; Repetitive Sequences, Nucleic Acid; Sequence Analysis, DNA; Software
Язык текста: Английский
ISSN: 1460-2059
Mandric I.
Knyazev S.
Zelikovskij A. Z. Aleksandr Zinovij 1960-
Мандриc И.
Князев С.
Зеликовский А. З. Александр Зиновий 1960-
Repeat-aware evaluation of scaffolding tools
Текст визуальный непосредственный
Bioinformatics
Oxford University Press
Vol.34, Issue15 P. 2530-2537
2018
Статья
article documentation genome gold standard simulation validation process algorithm bacterium contig mapping DNA sequence eukaryote genetics genome genomics human nucleotide repeat procedures software Algorithms Bacteria Contig Mapping Eukaryota Genome Genomics Humans Repetitive Sequences, Nucleic Acid Sequence Analysis, DNA Software
Summary: Genomic sequences are assembled into a variable, but large number of contigs that should be scaffolded (ordered and oriented) for facilitating comparative or functional analysis. Finding scaffolding is computationally challenging due to misassemblies, inconsistent coverage across the genome and long repeats. An accurate assessment of scaffolding tools should take into account multiple locations of the same contig on the reference scaffolding rather than matching a repeat to a single best location. This makes mapping of inferred scaffoldings onto the reference a computationally challenging problem. This paper formulates the repeat-aware scaffolding evaluation problem, which is to find a mapping of the inferred scaffolding onto the reference maximizing number of correct links and proposes a scalable algorithm capable of handling large wholegenome datasets. Our novel scaffolding validation framework has been applied to assess the most of state-of-the-art scaffolding tools on the