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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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Detalles Bibliográficos
Autores principales: Zhao, Lanling, Liu, Han, Yuan, Xiguo, Gao, Kun, Duan, Junbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059689/
https://www.ncbi.nlm.nih.gov/pubmed/32138645
http://dx.doi.org/10.1186/s12859-020-3421-1