phasebook: haplotype-aware de novo assembly of diploid genomes from long reads.
Genome Biol
; 22(1): 299, 2021 10 27.
Article
em En
| MEDLINE
| ID: mdl-34706745
ABSTRACT
Haplotype-aware diploid genome assembly is crucial in genomics, precision medicine, and many other disciplines. Long-read sequencing technologies have greatly improved genome assembly. However, current long-read assemblers are either reference based, so introduce biases, or fail to capture the haplotype diversity of diploid genomes. We present phasebook, a de novo approach for reconstructing the haplotypes of diploid genomes from long reads. phasebook outperforms other approaches in terms of haplotype coverage by large margins, in addition to achieving competitive performance in terms of assembly errors and assembly contiguity.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Haplótipos
/
Software
/
Análise de Sequência de DNA
/
Diploide
/
Sequenciamento de Nucleotídeos em Larga Escala
Tipo de estudo:
Evaluation_studies
Limite:
Humans
Idioma:
En
Revista:
Genome Biol
Ano de publicação:
2021
Tipo de documento:
Article