Single-Molecule Sequencing: Towards Clinical Applications.
Trends Biotechnol
; 37(1): 72-85, 2019 01.
Article
em En
| MEDLINE
| ID: mdl-30115375
ABSTRACT
In the past several years, single-molecule sequencing platforms, such as those by Pacific Biosciences and Oxford Nanopore Technologies, have become available to researchers and are currently being tested for clinical applications. They offer exceptionally long reads that permit direct sequencing through regions of the genome inaccessible or difficult to analyze by short-read platforms. This includes disease-causing long repetitive elements, extreme GC content regions, and complex gene loci. Similarly, these platforms enable structural variation characterization at previously unparalleled resolution and direct detection of epigenetic marks in native DNA. Here, we review how these technologies are opening up new clinical avenues that are being applied to pathogenic microorganisms and viruses, constitutional disorders, pharmacogenomics, cancer, and more.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência de DNA
/
Técnicas de Diagnóstico Molecular
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Sequenciamento de Nucleotídeos em Larga Escala
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Medicina Molecular
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Trends Biotechnol
Ano de publicação:
2019
Tipo de documento:
Article