Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Copy number variants (CNVs) contribute to human genetic and phenotypic diversity. However, the distribution of larger CNVs in the general population remains largely unexplored. We identify large variants in ∼2500 individuals by using Illumina SNP data, with an emphasis on “hotspots” prone to recurre...

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Detalhes bibliográficos
Main Authors: Itsara, Andy, Cooper, Gregory M., Baker, Carl, Girirajan, Santhosh, Li, Jun, Absher, Devin, Krauss, Ronald M., Myers, Richard M., Ridker, Paul M., Chasman, Daniel I., Mefford, Heather, Ying, Phyllis, Nickerson, Deborah A., Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668011/
https://ncbi.nlm.nih.gov/pubmed/19166990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.12.014
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