Genetics of cardiomyopathies: novel perspectives with next generation sequencing.
Curr Pharm Des
; 21(4): 418-30, 2015.
Article
en En
| MEDLINE
| ID: mdl-25483943
ABSTRACT
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium usually of genetic origin and with familial presentation. The identification of multiple genetic causes for these diseases has opened a new window for early diagnosis, understanding of their natural history and improvement in risk stratification and management. However, in the past years, the clinical application of genetics has been limited by the prohibiting cost and restricted yield of the available genotyping technologies. The emergence of Next Generation Sequencing (NGS) has completely changed this scenario. This group of sequencing technologies allow the evaluation of hundreds or even thousands of genes in parallel at an affordable cost. Now the challenge is not genotyping per se but the interpretation of the complex results that NGS generates. In this paper we review the main aspects related to the application and impact of Next Generation Sequencing in the study of cardiomyopathies technology, analysis procedures, bioinformatics, clinical validation and interpretation of results.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Análisis de Secuencia de ADN
/
Cardiomiopatías
Tipo de estudio:
Prognostic_studies
/
Screening_studies
Límite:
Humans
Idioma:
En
Revista:
Curr Pharm Des
Asunto de la revista:
FARMACIA
Año:
2015
Tipo del documento:
Article