isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

Abstract 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 o...

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Egile Nagusiak:	Rosa Barcelona-Cabeza, Walter Sanseverino, Riccardo Aiese Cigliano
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2021-10-01
Saila:	BMC Bioinformatics
Gaiak:	Copy number variants CNV Optimization NGS WES TS
Sarrera elektronikoa:	https://doi.org/10.1186/s12859-021-04452-6
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