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isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data
BACKGROUND: Accurate copy number variant (CNV) detection is especially challenging for both targeted sequencing (TS) and whole‐exome sequencing (WES) data. To maximize the performance, the parameters of the CNV calling algorithms should be optimized for each specific dataset. This requires obtaining...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555218/ https://www.ncbi.nlm.nih.gov/pubmed/34715772 http://dx.doi.org/10.1186/s12859-021-04452-6 |