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De novo rates and selection of large copy number variation

While copy number variation (CNV) is an active area of research, de novo mutation rates within human populations are not well characterized. By focusing on large (>100 kbp) events, we estimate the rate of de novo CNV formation in humans by analyzing 4394 transmissions from human pedigrees with an...

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Autores principales: Itsara, Andy, Wu, Hao, Smith, Joshua D., Nickerson, Deborah A., Romieu, Isabelle, London, Stephanie J., Eichler, Evan E.
Formato: Artigo
Lenguaje:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2963811/
https://ncbi.nlm.nih.gov/pubmed/20841430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.107680.110
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