Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing.
Genome Biol
; 12(12): R124, 2011 Dec 20.
Article
en En
| MEDLINE
| ID: mdl-22185227
ABSTRACT
Ultra-deep targeted sequencing (UDT-Seq) can identify subclonal somatic mutations in tumor samples. Early assays' limited breadth and depth restrict their clinical utility. Here, we target 71 kb of mutational hotspots in 42 cancer genes. We present novel methods enhancing both laboratory workflow and mutation detection. We evaluate UDT-Seq true sensitivity and specificity (> 94% and > 99%, respectively) for low prevalence mutations in a mixing experiment and demonstrate its utility using six tumor samples. With an improved performance when run on the Illumina Miseq, the UDT-Seq assay is well suited for clinical applications to guide therapy and study clonal selection in heterogeneous samples.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Sarcoma
/
Carcinoma
/
Análisis de Secuencia de ADN
/
Genes Relacionados con las Neoplasias
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Aged
/
Animals
/
Humans
/
Middle aged
Idioma:
En
Revista:
Genome Biol
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Estados Unidos