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Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

BACKGROUND: Whole exome sequencing (WES) has been widely accepted as a robust and cost-effective approach for clinical genetic testing of small sequence variants. Detection of copy number variants (CNV) within WES data have become possible through the development of various algorithms and software p...

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Dettagli Bibliografici
Pubblicato in:Mol Cytogenet
Autori principali: Yao, Ruen, Zhang, Cheng, Yu, Tingting, Li, Niu, Hu, Xuyun, Wang, Xiumin, Wang, Jian, Shen, Yiping
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5569469/
https://ncbi.nlm.nih.gov/pubmed/28852425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0333-5
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