{"entity": "researcher", "timestamp": "2026-07-20T16:15:53.227Z", "family": "Sebat", "given": "Jonathan", "initials": "J", "orcid": "0000-0002-9087-526X", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/dd6f99b76b62434e9deccbf84cb30d53.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/dd6f99b76b62434e9deccbf84cb30d53"}}, "publications": [{"entity": "publication", "iuid": "f25fd87e63e24502843cd39b5c596172", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f25fd87e63e24502843cd39b5c596172.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f25fd87e63e24502843cd39b5c596172"}}, "title": "Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.", "authors": [{"family": "Marshall", "given": "Christian R", "initials": "CR"}, {"family": "Howrigan", "given": "Daniel P", "initials": "DP"}, {"family": "Merico", "given": "Daniele", 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"MJ"}, {"family": "Palotie", "given": "Aarno", "initials": "A"}, {"family": "Pato", "given": "Carlos N", "initials": "CN"}, {"family": "Petryshen", "given": "Tracey L", "initials": "TL"}, {"family": "Posthuma", "given": "Danielle", "initials": "D"}, {"family": "Rietschel", "given": "Marcella", "initials": "M"}, {"family": "Riley", "given": "Brien P", "initials": "BP"}, {"family": "Rujescu", "given": "Dan", "initials": "D"}, {"family": "Sklar", "given": "Pamela", "initials": "P"}, {"family": "St Clair", "given": "David", "initials": "D"}, {"family": "Walters", "given": "James T R", "initials": "JTR"}, {"family": "Werge", "given": "Thomas", "initials": "T"}, {"family": "Sullivan", "given": "Patrick F", "initials": "PF"}, {"family": "O'Donovan", "given": "Michael C", "initials": "MC"}, {"family": "Scherer", "given": "Stephen W", "initials": "SW"}, {"family": "Neale", "given": "Benjamin M", "initials": "BM"}, {"family": "Sebat", "given": "Jonathan", "initials": "J", "orcid": "0000-0002-9087-526X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd6f99b76b62434e9deccbf84cb30d53.json"}}, {"family": "CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium", "given": "", "initials": ""}], "type": "comparative study", "published": "2017-01-00", "journal": {"volume": "49", "issn": "1546-1718", "issue": "1", "pages": "27-35", "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 \u00d7 10 -15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 \u00d7 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 \u00d7 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 \u00d7 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.", "doi": "10.1038/ng.3725", "pmid": "27869829", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "ng.3725"}, {"db": "pmc", "key": "PMC5737772"}, {"db": "mid", "key": "NIHMS918949"}], "notes": [], "created": "2017-05-08T07:59:07.363Z", "modified": "2021-06-21T15:52:42.322Z"}]}