Effects of error-correction of heterozygous next-generation sequencing data.
BMC Bioinformatics
; 15 Suppl 7: S3, 2014.
Article
em En
| MEDLINE
| ID: mdl-25077414
ABSTRACT
BACKGROUND:
Error correction is an important step in increasing the quality of next-generation sequencing data for downstream analysis and use. Polymorphic datasets are a challenge for many bioinformatic software packages that are designed for or assume homozygosity of an input dataset. This assumption ignores the true genomic composition of many organisms that are diploid or polyploid. In this survey, two different error correction packages, Quake and ECHO, are examined to see how they perform on next-generation sequence data from heterozygous genomes.RESULTS:
Quake and ECHO perform well and were able to correct many errors found within the data. However, errors that occur at heterozygous positions had unique trends. Errors at these positions were sometimes corrected incorrectly, introducing errors into the dataset with the possibility of creating a chimeric read. Quake was much less likely to create chimeric reads. Quake's read trimming removed a large portion of the original data and often left reads with few heterozygous markers. ECHO resulted in more chimeric reads and introduced more errors than Quake but preserved heterozygous markers.CONCLUSIONS:
These findings suggest that Quake and ECHO both have strengths and weaknesses when applied to heterozygous data. With the increased interest in haplotype specific analysis, new tools that are designed to be haplotype-aware are necessary that do not have the weaknesses of Quake and ECHO.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Software
/
Análise de Sequência de DNA
/
Genômica
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Sequenciamento de Nucleotídeos em Larga Escala
/
Heterozigoto
Limite:
Humans
Idioma:
En
Revista:
BMC Bioinformatics
Assunto da revista:
INFORMATICA MEDICA
Ano de publicação:
2014
Tipo de documento:
Article