Genomic patterns of de novo mutation in simplex autism

To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource includes >59 million single-nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,...

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Publicado en:Cell
Main Authors: Turner, Tychele N., Coe, Bradley P., Dickel, Diane E., Hoekzema, Kendra, Nelson, Bradley J., Zody, Michael C., Kronenberg, Zev N., Hormozdiari, Fereydoun, Raja, Archana, Pennacchio, Len A., Darnell, Robert B., Eichler, Evan E.
Formato: Artigo
Idioma:Inglês
Publicado: 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5679715/
https://ncbi.nlm.nih.gov/pubmed/28965761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2017.08.047
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