Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting.
Hum Mutat
; 34(11): 1583-7, 2013 Nov.
Article
em En
| MEDLINE
| ID: mdl-23956188
ABSTRACT
Next-generation sequencing (NGS) has significantly contributed to the transformation of genomic research by providing access to the genome for analysis, by significantly decreasing the sequencing costs and increasing the throughput. The next goal is to exploit this powerful technology in the clinic, namely for diagnostics and therapeutics. The 2013 annual meeting of the Human Genome Variation Society, held in Paris, France, provided a forum to discuss possible clinical applications of NGS, the potential of some of the current NGS systems to transition to the clinic, the identification of causative mutations for rare genetic disorders through whole-genome or targeted genome resequencing, the application of NGS for family genomics, and NGS data analysis tools.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Genoma Humano
/
Sequenciamento de Nucleotídeos em Larga Escala
Limite:
Humans
Idioma:
En
Revista:
Hum Mutat
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Reino Unido