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 renders them inapplicable in practice. To resolve this problem, in this study, we evaluated the performances of four WES-based CNV tools, and established a guideline for the recommendation of a suitable tool according to the application requirements.

Results

In this study, first, we selected four WES-based CNV detection tools: CoNIFER, cn.MOPS, CNVkit and exomeCopy. Then, we evaluated their performances in terms of three aspects: sensitivity and specificity, overlapping consistency and computa

SUBMITTER: Zhao L 

PROVIDER: S-EPMC7059689 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature