{"doi":"10.17615/611w-e983","title":"Functional impact of global rare copy number variation in autism spectrum disorders","abstract":"The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability (ID)2. While ASDs are known to be highly heritable (~90%)3, the underlying genetic determinants are still largely unknown. Here, we analyzed the genome-wide characteristics of rare (<1% frequency) copy number variation (CNV) in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic CNVs (1.19 fold, P= 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P= 3.4×10−4). Among the CNVs, there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes like SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene-sets involved in cellular proliferation, projection and motility, and GTPase/Ras signaling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.","journal":"UNC Libraries","year":2020,"id":142667,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9427,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":3003,"name":"Christina Corsello","orcid":null,"position":1,"is_corresponding":false},{"id":40229,"name":"Patrick Bolton","orcid":"0000-0002-5270-6262","position":2,"is_corresponding":false},{"id":308808,"name":"Dalila Pinto","orcid":"0000-0002-8769-0846","position":3,"is_corresponding":false},{"id":609813,"name":"Sean Brennan","orcid":"0000-0001-9844-6948","position":4,"is_corresponding":false},{"id":40232,"name":"Brian Hon‐Yin Chung","orcid":"0000-0002-7044-5916","position":5,"is_corresponding":false},{"id":40079,"name":"Judith Conroy","orcid":null,"position":6,"is_corresponding":false},{"id":40077,"name":"Daniele Merico","orcid":"0000-0002-3728-4401","position":7,"is_corresponding":false},{"id":40087,"name":"Agatino Battaglia","orcid":"0000-0002-7128-7606","position":8,"is_corresponding":false},{"id":40231,"name":"Jillian P. Casey","orcid":null,"position":9,"is_corresponding":false},{"id":40075,"name":"Lambertus Klei","orcid":"0000-0003-4524-4968","position":10,"is_corresponding":false},{"id":253992,"name":"Thomas Bourgeron","orcid":"0000-0001-8164-9220","position":11,"is_corresponding":false},{"id":40090,"name":"Sven Bölte","orcid":"0000-0002-4579-4970","position":12,"is_corresponding":false},{"id":40226,"name":"Tiago R. Magalhães","orcid":"0000-0002-5528-2119","position":13,"is_corresponding":false},{"id":106271,"name":"Gary D. Bader","orcid":"0000-0003-0185-8861","position":14,"is_corresponding":false},{"id":40227,"name":"Anthony Bailey","orcid":null,"position":15,"is_corresponding":false},{"id":40101,"name":"Emily L. Crawford","orcid":null,"position":16,"is_corresponding":false},{"id":609814,"name":"Joana Almeida","orcid":"0000-0001-5890-7623","position":17,"is_corresponding":false},{"id":40076,"name":"Richard Anney","orcid":"0000-0002-6083-407X","position":18,"is_corresponding":false},{"id":40102,"name":"Andrew Crossett","orcid":null,"position":19,"is_corresponding":false},{"id":40078,"name":"Regina Regan","orcid":null,"position":20,"is_corresponding":false},{"id":40095,"name":"Susan E. Bryson","orcid":null,"position":21,"is_corresponding":false},{"id":40097,"name":"Guillermo Casallo","orcid":null,"position":22,"is_corresponding":false},{"id":40081,"name":"Catarina Correia","orcid":"0000-0001-5481-2010","position":23,"is_corresponding":false},{"id":40089,"name":"Nadia Bolshakova","orcid":"0000-0003-2173-6562","position":24,"is_corresponding":false},{"id":40100,"name":"Lynne Cochrane","orcid":null,"position":25,"is_corresponding":false},{"id":40086,"name":"Gillian Baird","orcid":"0000-0002-7601-7074","position":26,"is_corresponding":false},{"id":40094,"name":"Jessica Brian","orcid":"0000-0001-8181-4353","position":27,"is_corresponding":false},{"id":40074,"name":"Alistair T. Pagnamenta","orcid":"0000-0001-7334-0602","position":28,"is_corresponding":false},{"id":40096,"name":"Andrew R. Carson","orcid":null,"position":29,"is_corresponding":false},{"id":40084,"name":"Elena Bacchelli","orcid":"0000-0001-8800-9568","position":30,"is_corresponding":false},{"id":40082,"name":"Brett S. Abrahams","orcid":null,"position":31,"is_corresponding":false},{"id":40228,"name":"T. P. Berney","orcid":null,"position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-18T23:17:34.768426Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}