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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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Bibliografiset tiedot
Julkaisussa:Mol Cytogenet
Päätekijät: Yao, Ruen, Zhang, Cheng, Yu, Tingting, Li, Niu, Hu, Xuyun, Wang, Xiumin, Wang, Jian, Shen, Yiping
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2017
Aiheet:
Linkit: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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