Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

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buir.contributor.authorNorman, Utku
buir.contributor.authorÇicek, A. Ercüment
dc.citation.epage5.84E+025en_US
dc.citation.issueNumber3en_US
dc.citation.spage568en_US
dc.citation.volumeNumber180en_US
dc.contributor.authorSatterstrom, F. K.en_US
dc.contributor.authorKosmicki, J. A.en_US
dc.contributor.authorWang, J.en_US
dc.contributor.authorBreen, M. S.en_US
dc.contributor.authorDe Rubeis, S.en_US
dc.contributor.authorAn, J. - Y.en_US
dc.contributor.authorPeng, M.en_US
dc.contributor.authorCollins, R.en_US
dc.contributor.authorGrove, J.en_US
dc.contributor.authorKlei, L.en_US
dc.contributor.authorStevens, C.en_US
dc.contributor.authorReichert, J.en_US
dc.contributor.authorMulhern, M. S.en_US
dc.contributor.authorArtomov, M.en_US
dc.contributor.authorGerges, S.en_US
dc.contributor.authorSheppard, B.en_US
dc.contributor.authorXu, X.en_US
dc.contributor.authorBhaduri, A.en_US
dc.contributor.authorNorman, Utkuen_US
dc.contributor.authorBrand, H.en_US
dc.contributor.authorSchwartz, G.en_US
dc.contributor.authorNguyen, R.en_US
dc.contributor.authorGuerrero, E. E.en_US
dc.contributor.authorDias, C.en_US
dc.contributor.authorAutism Sequencing Consortiumen_US
dc.contributor.authoriPSYCH-Broad Consortiumen_US
dc.contributor.authorBetancur, Cen_US
dc.contributor.authorCook, Een_US
dc.contributor.authorGallagher, Len_US
dc.contributor.authorGill, Men_US
dc.contributor.authorSutcliffe, Jen_US
dc.contributor.authorThurm, Aen_US
dc.contributor.authorZwick, Men_US
dc.contributor.authorState, Men_US
dc.contributor.authorÇicek, A. Ercümenten_US
dc.contributor.authorTalkowski, Men_US
dc.contributor.authorCutler, Den_US
dc.contributor.authorDevlin, B.en_US
dc.contributor.authorSanders, Sen_US
dc.contributor.authorRoeder, K.en_US
dc.contributor.authorDaly, Men_US
dc.contributor.authorBuxbaum, J.en_US
dc.date.accessioned2021-02-18T12:13:28Z
dc.date.available2021-02-18T12:13:28Z
dc.date.issued2020-02-06
dc.departmentDepartment of Computer Engineeringen_US
dc.description.abstractWe present the largest exome sequencing study ofautism spectrum disorder (ASD) to date (n = 35,584total samples, 11,986 with ASD). Using an enhancedanalytical framework to integratedenovoand case-control rare variation, we identify 102 risk genes at afalse discovery rate of 0.1 or less. Of these genes, 49show higher frequencies of disruptivedenovovari-ants in individuals ascertained to have severe neuro-developmental delay, whereas 53 show higher fre-quencies in individuals ascertained to have ASD;comparing ASD cases with mutations in thesegroups reveals phenotypic differences. Expressedearly in brain development, most risk genes haveroles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelop-mental and neurophysiological changes), and 13 fallwithin loci recurrently hit by copy number variants.In cells from the human cortex, expression of riskgenes is enriched in excitatory and inhibitoryneuronal lineages, consistent with multiple paths toan excitatory-inhibitory imbalance underlying ASD.en_US
dc.description.provenanceSubmitted by Evrim Ergin (eergin@bilkent.edu.tr) on 2021-02-18T12:13:28Z No. of bitstreams: 1 Large-scale_exome_sequencing_study_implicates_both_developmental_and_functional_changes_in_the_neurobiology_of_autism.pdf: 10863523 bytes, checksum: 9ed046de6bcc36b5695a22f2e720e39c (MD5)en
dc.description.provenanceMade available in DSpace on 2021-02-18T12:13:28Z (GMT). No. of bitstreams: 1 Large-scale_exome_sequencing_study_implicates_both_developmental_and_functional_changes_in_the_neurobiology_of_autism.pdf: 10863523 bytes, checksum: 9ed046de6bcc36b5695a22f2e720e39c (MD5) Previous issue date: 2020-02-06en
dc.embargo.release2021-02-06
dc.identifier.doi10.1016/j.cell.2019.12.036en_US
dc.identifier.issn0092-8674
dc.identifier.urihttp://hdl.handle.net/11693/75461
dc.language.isoEnglishen_US
dc.publisherElsevieren_US
dc.relation.isversionofhttps://dx.doi.org/10.1016/j.cell.2019.12.036en_US
dc.source.titleCellen_US
dc.subjectAutism spectrum disorderen_US
dc.subjectCell typeen_US
dc.subjectCytoskeletonen_US
dc.subjectExcitatory neuronsen_US
dc.subjectExcitatory-inhibitory balanceen_US
dc.subjectExome sequencingen_US
dc.subjectGeneticsen_US
dc.subjectInhibitory neuronsen_US
dc.subjectLiabilityen_US
dc.titleLarge-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autismen_US
dc.typeArticleen_US

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