STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Genome Biol
; 19(1): 121, 2018 08 21.
Article
em En
| MEDLINE
| ID: mdl-30129428
ABSTRACT
Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority of pathogenic expansions. Here we present STRetch, a new genome-wide method to scan for STR expansions at all loci across the human genome. We demonstrate the use of STRetch for detecting STR expansions using short-read whole-genome sequencing data at known pathogenic loci as well as novel STR loci. STRetch is open source software, available from github.com/Oshlack/STRetch .
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Software
/
Repetições de Microssatélites
/
Expansão das Repetições de DNA
Limite:
Humans
Idioma:
En
Revista:
Genome Biol
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Austrália