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Family-Based Benchmarking of Copy Number Variation Detection Software

The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases. Hence, a large number of algorithms have been developed for the detection of CNVs in SNP array signal intensity data. Using the European and Afr...

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Detalles Bibliográficos
Autores principales:	Nutsua, Marcel Elie, Fischer, Annegret, Nebel, Almut, Hofmann, Sylvia, Schreiber, Stefan, Krawczak, Michael, Nothnagel, Michael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510559/ https://www.ncbi.nlm.nih.gov/pubmed/26197066 http://dx.doi.org/10.1371/journal.pone.0133465

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