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Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2
Copy Number Variants (CNVs) are structural rearrangements contributing to phenotypic variation that have been proved to be associated with many disease states. Over the last years, the identification of CNVs from whole-exome sequencing (WES) data has become a common practice for research and clinica...
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| Pubblicato in: | Nucleic Acids Res |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5175347/ https://ncbi.nlm.nih.gov/pubmed/27507884 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkw695 |
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