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...

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Detalles Bibliográficos
Autores principales: Barcelona-Cabeza, Rosa, Sanseverino, Walter, Aiese Cigliano, Riccardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Software
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

Internet

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

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