Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives.
Oncotarget
; 6(8): 5477-89, 2015 Mar 20.
Article
em En
| MEDLINE
| ID: mdl-25849937
ABSTRACT
Somatic Structural Variations (SVs) are a complex collection of chromosomal mutations that could directly contribute to carcinogenesis. Next Generation Sequencing (NGS) technology has emerged as the primary means of interrogating the SVs of the cancer genome in recent investigations. Sophisticated computational methods are required to accurately identify the SV events and delineate their breakpoints from the massive amounts of reads generated by a NGS experiment. In this review, we provide an overview of current analytic tools used for SV detection in NGS-based cancer studies. We summarize the features of common SV groups and the primary types of NGS signatures that can be used in SV detection methods. We discuss the principles and key similarities and differences of existing computational programs and comment on unresolved issues related to this research field. The aim of this article is to provide a practical guide of relevant concepts, computational methods, software tools and important factors for analyzing and interpreting NGS data for the detection of SVs in the cancer genome.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise de Sequência de DNA
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Genômica
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Variação Estrutural do Genoma
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Neoplasias
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Oncotarget
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Estados Unidos