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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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Nutsua, Marcel Elie, Fischer, Annegret, Nebel, Almut, Hofmann, Sylvia, Schreiber, Stefan, Krawczak, Michael, Nothnagel, Michael
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4510559/
https://ncbi.nlm.nih.gov/pubmed/26197066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0133465
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