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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Detalles Bibliográficos
Autores principales: Yao, Ruen, Zhang, Cheng, Yu, Tingting, Li, Niu, Hu, Xuyun, Wang, Xiumin, Wang, Jian, Shen, Yiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569469/
https://www.ncbi.nlm.nih.gov/pubmed/28852425
http://dx.doi.org/10.1186/s13039-017-0333-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569469/
https://www.ncbi.nlm.nih.gov/pubmed/28852425
http://dx.doi.org/10.1186/s13039-017-0333-5

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