The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.
Genet Res (Camb)
; 97: e15, 2015 Sep 14.
Article
em En
| MEDLINE
| ID: mdl-26365496
ABSTRACT
There are an estimated 6000-8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have revolutionized research of rare diseases. This article will first comment on the effectiveness of NGS through the lens of long-tailed economics. We then provide an overview of recent developments and challenges of NGS-based research on rare diseases. As the quality of NGS studies improve and the cost of sequencing decreases, NGS will continue to make a significant impact on the study of rare diseases moving forward.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Raras
/
Pesquisa Biomédica
/
Estudo de Associação Genômica Ampla
/
Sequenciamento de Nucleotídeos em Larga Escala
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article