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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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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2017
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| 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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