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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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Detalles Bibliográficos
Autores principales:	Straver, Roy, Weiss, Marjan M., Waisfisz, Quinten, Sistermans, Erik A., Reinders, Marcel J. T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865163/ https://www.ncbi.nlm.nih.gov/pubmed/29255179 http://dx.doi.org/10.1038/s41431-017-0005-2

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