Assembling draft genomes using contiBAIT.
Bioinformatics
; 33(17): 2737-2739, 2017 Sep 01.
Article
em En
| MEDLINE
| ID: mdl-28475666
ABSTRACT
SUMMARY:
Massively parallel sequencing is now widely used, but data interpretation is only as good as the reference assembly to which it is aligned. While the number of reference assemblies has rapidly expanded, most of these remain at intermediate stages of completion, either as scaffold builds, or as chromosome builds (consisting of correctly ordered, but not necessarily correctly oriented scaffolds separated by gaps). Completion of de novo assemblies remains difficult, as regions that are repetitive or hard to sequence prevent the accumulation of larger scaffolds, and create errors such as misorientations and mislocalizations. Thus, complementary methods for determining the orientation and positioning of fragments are important for finishing assemblies. Strand-seq is a method for determining template strand inheritance in single cells, information that can be used to determine relative genomic distance and orientation between scaffolds, and find errors within them. We present contiBAIT, an R/Bioconductor package which uses Strand-seq data to repair and improve existing assemblies. AVAILABILITY AND IMPLEMENTATION contiBAIT is available on Bioconductor. Source files available from GitHub. CONTACT koneill@bcgsc.ca or mark.hills@stemcell.com. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Software
/
Genoma Humano
/
Análise de Sequência de DNA
/
Sequenciamento de Nucleotídeos em Larga Escala
Limite:
Humans
Idioma:
En
Revista:
Bioinformatics
Ano de publicação:
2017
Tipo de documento:
Article