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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Publicat a:Cell
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2017
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Article
Accés en línia: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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