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

Background With the rapid development of whole exome sequencing (WES), an increasing number of tools are being proposed for copy number variation (CNV) detection based on this technique. However, no comprehensive guide is available for the use of these tools in clinical settings, which renders them...

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Bibliographic Details
Published in:	BMC bioinformatics Vol. 21; no. 1; pp. 97 - 10
Main Authors:	Zhao, Lanling, Liu, Han, Yuan, Xiguo, Gao, Kun, Duan, Junbo
Format:	Journal Article
Language:	English
Published:	London BioMed Central 05.03.2020 BioMed Central Ltd Springer Nature B.V BMC
Subjects:	Accuracy Algorithms Bioinformatics Biomedical and Life Sciences Comparative literature Comparative studies Computational Biology/Bioinformatics Computer Appl. in Life Sciences Computer science Copy number Copy number variants DNA Copy Number Variations DNA sequencing Exome - genetics Genes Genetic variation Genomes Humans Life Sciences Medical research Methods Microarrays Next generation sequencing Observations Overlapping consistency Research Article Researchers Sensitivity Sequences Setting (Literature) Software - economics Specificity Structural analysis Studies Time Whole exome sequencing Whole Exome Sequencing - methods China Sensitivity Specificity Computational costs Whole exome sequencing Overlapping consistency Guideline Next generation sequencing Recommendation Copy number variants
ISSN:	1471-2105, 1471-2105
Online Access:	Get full text
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