Evaluation of somatic copy number estimation tools for whole-exome sequencing data

Whole-exome sequencing (WES) has become a standard method for detecting genetic variants in human diseases. Although the primary use of WES data has been the identification of single nucleotide variations and indels, these data also offer a possibility of detecting copy number variations (CNVs) at h...

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Detalhes bibliográficos
Publicado no:Brief Bioinform
Main Authors: Nam, Jae-Yong, Kim, Nayoung K. D., Kim, Sang Cheol, Joung, Je-Gun, Xi, Ruibin, Lee, Semin, Park, Peter J., Park, Woong-Yang
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Papers
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6283367/
https://ncbi.nlm.nih.gov/pubmed/26210357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bib/bbv055
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