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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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| Pubblicato in: | Mol Cytogenet |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5569469/ https://ncbi.nlm.nih.gov/pubmed/28852425 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0333-5 |
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