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Benchmarking germline CNV calling tools from exome sequencing data

Whole-exome sequencing is an attractive alternative to microarray analysis because of the low cost and potential ability to detect copy number variations (CNV) of various sizes (from 1–2 exons to several Mb). Previous comparison of the most popular CNV calling tools showed a high portion of false-po...

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Detalles Bibliográficos
Autores principales:	Gordeeva, Veronika, Sharova, Elena, Babalyan, Konstantin, Sultanov, Rinat, Govorun, Vadim M., Arapidi, Georgij
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8277855/ https://www.ncbi.nlm.nih.gov/pubmed/34257369 http://dx.doi.org/10.1038/s41598-021-93878-2

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