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XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments
BACKGROUND: We developed a novel software package, XCAVATOR, for the identification of genomic regions involved in copy number variants/alterations (CNVs/CNAs) from short and long reads whole-genome sequencing experiments. RESULTS: By using simulated and real datasets we showed that our tool, based...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609061/ https://www.ncbi.nlm.nih.gov/pubmed/28934930 http://dx.doi.org/10.1186/s12864-017-4137-0 |