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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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Vydáno v:BMC Bioinformatics
Hlavní autoři: Zhao, Lanling, Liu, Han, Yuan, Xiguo, Gao, Kun, Duan, Junbo
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7059689/
https://ncbi.nlm.nih.gov/pubmed/32138645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-020-3421-1
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