New Lung Cancer Panel for High-Throughput Targeted Resequencing
Genomics & Informatics
; : 50-57, 2014.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-41695
Biblioteca responsável:
WPRO
ABSTRACT
We present a new next-generation sequencing-based method to identify somatic mutations of lung cancer. It is a comprehensive mutation profiling protocol to detect somatic mutations in 30 genes found frequently in lung adenocarcinoma. The total length of the target regions is 107 kb, and a capture assay was designed to cover 99% of it. This method exhibited about 97% mean coverage at 30x sequencing depth and 42% average specificity when sequencing of more than 3.25 Gb was carried out for the normal sample. We discovered 513 variations from targeted exome sequencing of lung cancer cells, which is 3.9-fold higher than in the normal sample. The variations in cancer cells included previously reported somatic mutations in the COSMIC database, such as variations in TP53, KRAS, and STK11 of sample H-23 and in EGFR of sample H-1650, especially with more than 1,000x coverage. Among the somatic mutations, up to 91% of single nucleotide polymorphisms from the two cancer samples were validated by DNA microarray-based genotyping. Our results demonstrated the feasibility of high-throughput mutation profiling with lung adenocarcinoma samples, and the profiling method can be used as a robust and effective protocol for somatic variant screening.
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
Problema de saúde:
Meta 3.4: Reduzir as mortes prematuras devido doenças não transmissíveis
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
DNA
/
Adenocarcinoma
/
Programas de Rastreamento
/
Sensibilidade e Especificidade
/
Polimorfismo de Nucleotídeo Único
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Exoma
/
Pulmão
/
Neoplasias Pulmonares
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Idioma:
Inglês
Revista:
Genomics & Informatics
Ano de publicação:
2014
Tipo de documento:
Artigo