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CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data

BACKGROUND: Copy number variants (CNVs) are known to play an important role in the development and progression of several diseases. However, detection of CNVs with whole-exome sequencing (WES) experiments is challenging. Usually, additional experiments have to be performed. FINDINGS: We developed a...

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Detalles Bibliográficos
Autores principales:	Sandmann, Sarah, Wöste, Marius, de Graaf, Aniek O, Burkhardt, Birgit, Jansen, Joop H, Dugas, Martin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Technical Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7604644/ https://www.ncbi.nlm.nih.gov/pubmed/33135740 http://dx.doi.org/10.1093/gigascience/giaa118

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