Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.
Expert Rev Mol Diagn
; 12(2): 159-73, 2012 Mar.
Article
en En
| MEDLINE
| ID: mdl-22369376
ABSTRACT
The potential applications of next-generation sequencing technologies in diagnostic laboratories have become increasingly evident despite the various technical challenges that still need to be overcome to potentiate its widespread adoption in a clinical setting. Whole-genome sequencing is now both technically feasible and 'cost effective' using next-generation sequencing techniques. However, this approach is still considered to be 'expensive' for a diagnostic test. Although the goal of the US$1000 genome is fast approaching, neither the analytical hurdles nor the ethical issues involved are trivial. In addition, the cost of data analysis and storage has been much higher than initially expected. As a result, it is widely perceived that targeted sequencing and whole-exome sequencing are more likely to be adopted as diagnostic tools in the foreseeable future. However, the information-generating power of whole-exome sequencing has also sparked considerable debate in relation to its deployment in genetic diagnostics, particularly with reference to the revelation of incidental findings. In this review, we focus on the targeted sequencing approach and its potential as a genetic diagnostic tool.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Análisis de Secuencia de ADN
/
Mutación de Línea Germinal
/
Técnicas de Diagnóstico Molecular
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Expert Rev Mol Diagn
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2012
Tipo del documento:
Article
País de afiliación:
Singapur