Accurate detection of complex structural variations using single-molecule sequencing.
Nat Methods
; 15(6): 461-468, 2018 06.
Article
em En
| MEDLINE
| ID: mdl-29713083
ABSTRACT
Structural variations are the greatest source of genetic variation, but they remain poorly understood because of technological limitations. Single-molecule long-read sequencing has the potential to dramatically advance the field, although high error rates are a challenge with existing methods. Addressing this need, we introduce open-source methods for long-read alignment (NGMLR; https//github.com/philres/ngmlr ) and structural variant identification (Sniffles; https//github.com/fritzsedlazeck/Sniffles ) that provide unprecedented sensitivity and precision for variant detection, even in repeat-rich regions and for complex nested events that can have substantial effects on human health. In several long-read datasets, including healthy and cancerous human genomes, we discovered thousands of novel variants and categorized systematic errors in short-read approaches. NGMLR and Sniffles can automatically filter false events and operate on low-coverage data, thereby reducing the high costs that have hindered the application of long reads in clinical and research settings.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
/
Análise de Sequência de DNA
/
Sequenciamento de Nucleotídeos em Larga Escala
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article