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

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

Abstract 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 rend...

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Bibliographic Details
Main Authors: Lanling Zhao, Han Liu, Xiguo Yuan, Kun Gao, Junbo Duan
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Bioinformatics
Subjects:
Copy number variants
Next generation sequencing
Whole exome sequencing
Sensitivity
Specificity
Overlapping consistency
Online Access:http://link.springer.com/article/10.1186/s12859-020-3421-1

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http://link.springer.com/article/10.1186/s12859-020-3421-1

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