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WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data

In clinical genetics, detection of single nucleotide polymorphisms (SNVs) as well as copy number variations (CNVs) is essential for patient genotyping. Obtaining both CNV and SNV information from WES data would significantly simplify clinical workflow. Unfortunately, the sequence reads obtained with...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Straver, Roy, Weiss, Marjan M., Waisfisz, Quinten, Sistermans, Erik A., Reinders, Marcel J. T.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5865163/
https://ncbi.nlm.nih.gov/pubmed/29255179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0005-2
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