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      Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

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      Author
      Sanders, S. J.
      He, X.
      Willsey, A. J.
      Ercan-Sencicek, A. G.
      Samocha, K. E.
      Cicek, A. E.
      Murtha, M. T.
      Bal, V. H.
      Bishop, S. L.
      Dong, S.
      Goldberg, A. P.
      Jinlu, C.
      Keaney, J. F.
      Keaney III, J. F.
      Mandell, J. D.
      Moreno-De-Luca, D.
      Poultney, C. S.
      Robinson, E. B.
      Smith L.
      Solli-Nowlan, T.
      Su, M. Y.
      Teran, N. A.
      Walker, M. F.
      Werling, D. M.
      Beaudet, A. L.
      Cantor, R. M.
      Fombonne, E.
      Geschwind, D. H.
      Grice, D. E.
      Lord, C.
      Lowe, J. K.
      Mane, S. M.
      Martin, D.M.
      Morrow, E. M.
      Talkowski, M. E.
      Sutcliffe, J. S.
      Walsh, C. A.
      Yu, T. W.
      Ledbetter, D. H.
      Martin, C. L.
      Cook, E. H.
      Buxbaum, J. D.
      Daly, M. J.
      Devlin, B.
      Roeder, K.
      State, M. W.
      Date
      2015
      Source Title
      Neuron
      Print ISSN
      0896-6273
      Publisher
      Cell Press
      Volume
      87
      Issue
      6
      Pages
      1215 - 1233
      Language
      English
      Type
      Article
      Item Usage Stats
      137
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      205
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      Abstract
      Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1). Through analysis of de novo mutations in autism spectrum disorder (ASD), Sanders et al. find that small deletions, but not large deletions/duplications, contain one critical gene. Combining CNV and sequencing data, they identify 6 loci and 65 genes associated with ASD.
      Keywords
      Autism
      Child
      Chromatin
      Controlled study
      Copy number variation
      Female
      Gene deletion
      Gene duplication
      Gene identification
      Gene locus
      Gene mutation
      Gene sequence
      Gene structure
      Gene targeting
      Genetic association
      Genetic risk
      Genotype
      Human
      Intellectual impairment
      Major clinical study
      Male
      Priority journal
      Risk assessment
      Risk factor
      Single nucleotide polymorphism
      Synapse
      Permalink
      http://hdl.handle.net/11693/22959
      Published Version (Please cite this version)
      http://dx.doi.org/10.1016/j.neuron.2015.09.016
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