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

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dc.citation.epage1233en_US
dc.citation.issueNumber6en_US
dc.citation.spage1215en_US
dc.citation.volumeNumber87en_US
dc.contributor.authorSanders, S. J.en_US
dc.contributor.authorHe, X.en_US
dc.contributor.authorWillsey, A. J.en_US
dc.contributor.authorErcan-Sencicek, A. G.en_US
dc.contributor.authorSamocha, K. E.en_US
dc.contributor.authorCicek, A. E.en_US
dc.contributor.authorMurtha, M. T.en_US
dc.contributor.authorBal, V. H.en_US
dc.contributor.authorBishop, S. L.en_US
dc.contributor.authorDong, S.en_US
dc.contributor.authorGoldberg, A. P.en_US
dc.contributor.authorJinlu, C.en_US
dc.contributor.authorKeaney, J. F.en_US
dc.contributor.authorKeaney III, J. F.en_US
dc.contributor.authorMandell, J. D.en_US
dc.contributor.authorMoreno-De-Luca, D.en_US
dc.contributor.authorPoultney, C. S.en_US
dc.contributor.authorRobinson, E. B.en_US
dc.contributor.authorSmith L.en_US
dc.contributor.authorSolli-Nowlan, T.en_US
dc.contributor.authorSu, M. Y.en_US
dc.contributor.authorTeran, N. A.en_US
dc.contributor.authorWalker, M. F.en_US
dc.contributor.authorWerling, D. M.en_US
dc.contributor.authorBeaudet, A. L.en_US
dc.contributor.authorCantor, R. M.en_US
dc.contributor.authorFombonne, E.en_US
dc.contributor.authorGeschwind, D. H.en_US
dc.contributor.authorGrice, D. E.en_US
dc.contributor.authorLord, C.en_US
dc.contributor.authorLowe, J. K.en_US
dc.contributor.authorMane, S. M.en_US
dc.contributor.authorMartin, D.M.en_US
dc.contributor.authorMorrow, E. M.en_US
dc.contributor.authorTalkowski, M. E.en_US
dc.contributor.authorSutcliffe, J. S.en_US
dc.contributor.authorWalsh, C. A.en_US
dc.contributor.authorYu, T. W.en_US
dc.contributor.authorLedbetter, D. H.en_US
dc.contributor.authorMartin, C. L.en_US
dc.contributor.authorCook, E. H.en_US
dc.contributor.authorBuxbaum, J. D.en_US
dc.contributor.authorDaly, M. J.en_US
dc.contributor.authorDevlin, B.en_US
dc.contributor.authorRoeder, K.en_US
dc.contributor.authorState, M. W.en_US
dc.date.accessioned2016-02-08T10:07:04Z
dc.date.available2016-02-08T10:07:04Z
dc.date.issued2015en_US
dc.departmentDepartment of Computer Engineeringen_US
dc.description.abstractAnalysis 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.en_US
dc.description.provenanceMade available in DSpace on 2016-02-08T10:07:04Z (GMT). No. of bitstreams: 1 bilkent-research-paper.pdf: 70227 bytes, checksum: 26e812c6f5156f83f0e77b261a471b5a (MD5) Previous issue date: 2015en
dc.identifier.doi10.1016/j.neuron.2015.09.016en_US
dc.identifier.issn0896-6273
dc.identifier.urihttp://hdl.handle.net/11693/22959
dc.language.isoEnglishen_US
dc.publisherCell Pressen_US
dc.relation.isversionofhttp://dx.doi.org/10.1016/j.neuron.2015.09.016en_US
dc.source.titleNeuronen_US
dc.subjectAutismen_US
dc.subjectChilden_US
dc.subjectChromatinen_US
dc.subjectControlled studyen_US
dc.subjectCopy number variationen_US
dc.subjectFemaleen_US
dc.subjectGene deletionen_US
dc.subjectGene duplicationen_US
dc.subjectGene identificationen_US
dc.subjectGene locusen_US
dc.subjectGene mutationen_US
dc.subjectGene sequenceen_US
dc.subjectGene structureen_US
dc.subjectGene targetingen_US
dc.subjectGenetic associationen_US
dc.subjectGenetic risken_US
dc.subjectGenotypeen_US
dc.subjectHumanen_US
dc.subjectIntellectual impairmenten_US
dc.subjectMajor clinical studyen_US
dc.subjectMaleen_US
dc.subjectPriority journalen_US
dc.subjectRisk assessmenten_US
dc.subjectRisk factoren_US
dc.subjectSingle nucleotide polymorphismen_US
dc.subjectSynapseen_US
dc.titleInsights into autism spectrum disorder genomic architecture and biology from 71 risk locien_US
dc.typeArticleen_US

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