SpeedSeq: ultra-fast personal genome analysis and interpretation.
Nat Methods
; 12(10): 966-8, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26258291
SpeedSeq is an open-source genome analysis platform that accomplishes alignment, variant detection and functional annotation of a 50× human genome in 13 h on a low-cost server and alleviates a bioinformatics bottleneck that typically demands weeks of computation with extensive hands-on expert involvement. SpeedSeq offers performance competitive with or superior to current methods for detecting germline and somatic single-nucleotide variants, structural variants, insertions and deletions, and it includes novel functionality for streamlined interpretation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Software
/
Genoma Humano
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Anotação de Sequência Molecular
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article