Comparative study of whole exome sequencing-based copy number variation detection tools.

Zhao, Lanling; Liu, Han; Yuan, Xiguo; Gao, Kun; Duan, Junbo

Zhao, Lanling; Liu, Han; Yuan, Xiguo; Gao, Kun; Duan, Junbo.

Afiliação

Zhao L; Department of Biomedical Engineering, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, China.
Liu H; Department of Biomedical Engineering, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, China.
Yuan X; School of Computer Science and Technology, Xidian University, Xi'an, China.
Gao K; Department of Biomedical Engineering, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, China.
Duan J; Department of Biomedical Engineering, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, China. junbo.duan@mail.xjtu.edu.cn.

BMC Bioinformatics ; 21(1): 97, 2020 Mar 05.

Article em En | MEDLINE | ID: mdl-32138645

Assuntos

Variações do Número de Cópias de DNA; Sequenciamento do Exoma/métodos; Algoritmos; Exoma/genética; Humanos; Software/economia

Palavras-chave

Computational costs; Copy number variants; Guideline; Next generation sequencing; Overlapping consistency; Recommendation; Sensitivity; Specificity; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variações do Número de Cópias de DNA / Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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