Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

We have systematically compared copy number variant (CNV) detection on eleven microarrays to evaluate data quality and CNV calling, reproducibility, concordance across array platforms and laboratory sites, breakpoint accuracy and analysis tool variability. Different analytic tools applied to the sam...

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Autori principali: Pinto, Dalila, Darvishi, Katayoon, Shi, Xinghua, Rajan, Diana, Rigler, Diane, Fitzgerald, Tom, Lionel, Anath C, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R, Mills, Ryan, Prasad, Aparna, Noonan, Kristin, Gribble, Susan, Prigmore, Elena, Donahoe, Patricia K, Smith, Richard S, Park, Ji Hyeon, Hurles, Matthew E, Carter, Nigel P, Lee, Charles, Scherer, Stephen W, Feuk, Lars
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3270583/
https://ncbi.nlm.nih.gov/pubmed/21552272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nbt.1852
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