Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.
Genet Med
; 17(2): 99-107, 2015 Feb.
Article
em En
| MEDLINE
| ID: mdl-25032985
ABSTRACT
PURPOSE:
We aimed to demonstrate the detection of exonic deletions using target capture and deep sequencing data.METHODS:
Sequence data from target gene capture followed by massively parallel sequencing were analyzed for the detection of exonic deletions using the normalized mean coverage of individual exons. We compared the results with those obtained from high-density exon-targeted array comparative genomic hybridization and applied similar analysis to examine samples from patients with pathogenic exonic deletions.RESULTS:
Thirty-eight samples, each containing 2,134, 2,833, or 4,688 coding exons from different panels, with a total of 103,863 exons, were analyzed by capture-massively parallel sequencing and array comparative genomic hybridization. Ten deletions detected by array comparative genomic hybridization were all detected by massively parallel sequencing, whereas only two of three duplications were detected. We were able to detect all pathogenic exonic deletions in 11 positive cases. Thirty-one exonic copy number changes from nine perspective clinical samples were also identified.CONCLUSION:
Our results demonstrated the feasibility of using the same set of sequence data to detect both point mutations and exonic deletions, thus improving the diagnostic power of massively parallel sequencing-based assays.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Éxons
/
Deleção de Sequência
/
Sequenciamento de Nucleotídeos em Larga Escala
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article