Transmission Disequilibrium of Small CNVs in Simplex Autism

We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP micro...

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Detalhes bibliográficos
Main Authors: Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791263/
https://ncbi.nlm.nih.gov/pubmed/24035194
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.024
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