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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Detalhes bibliográficos
Main Authors: Itsara, Andy, Wu, Hao, Smith, Joshua D., Nickerson, Deborah A., Romieu, Isabelle, London, Stephanie J., Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2010
Assuntos:
Research
Acesso em linha: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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