{"id":"W4306856269","doi":"10.1016/j.rasd.2022.102055","title":"Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder","year":2022,"lang":"en","type":"article","venue":"Research in autism spectrum disorders","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Institut Universitaire en Santé Mentale de Québec; McGill University; Montreal Neurological Institute and Hospital","funders":"Horizon 2020; Medical Research Council Canada; Medical Research Council; Institut National de la Santé et de la Recherche Médicale; Fonds de Recherche du Québec - Santé; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Université Paris-Sud; Fédération pour la Recherche sur le Cerveau; Fondation pour la Recherche Médicale; Deutsche Forschungsgemeinschaft; King’s College London; Scottish Funding Council; Fondation de France; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; University of Edinburgh; Fondation de l'Avenir pour la Recherche Médicale Appliquée; Wellcome Trust; Fondation Bettencourt Schueller; Fondation Jean-Louis Lévesque; Canadian Institutes of Health Research; Compute Canada; South London and Maudsley NHS Foundation Trust; National Institutes of Health","keywords":"Copy-number variation; Autism spectrum disorder; Autism; Cohort; Psychology; Genetics; Candidate gene; Psychiatry; Gene; Medicine; Biology; Internal medicine; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","sts","research_integrity","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.005449878,0.0008267998,0.0009456252,0.001911221,0.003103917,0.0005969012,0.004038285,0.0003007131,0.005044933],"category_scores_gemma":[0.0009562812,0.0007752851,0.000467587,0.005977547,0.0009783107,0.0006760657,0.001828396,0.005575384,0.0003962739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001461024,"about_ca_system_score_gemma":0.0008882922,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009137347,"about_ca_topic_score_gemma":0.01604043,"domain_scores_codex":[0.9806601,0.006299435,0.001230937,0.002637716,0.00443006,0.0047418],"domain_scores_gemma":[0.9942967,0.002969512,0.0003894444,0.001929161,0.00001010281,0.0004051062],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.003570339,0.008200249,0.1982715,0.0003064077,0.0001510626,0.002324036,0.01118846,0.006695304,0.002969763,0.7554412,0.001629591,0.009252056],"study_design_scores_gemma":[0.008427258,0.001165612,0.3685502,0.00005433994,0.00002251189,0.0002186414,0.00254133,0.01284962,0.0009565172,0.5915217,0.0123891,0.001303216],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7611823,0.0006850704,0.001398598,0.2211404,0.0009895784,0.00836502,0.002006894,0.0002690248,0.003963123],"genre_scores_gemma":[0.9932262,0.001833853,0.00009873004,0.000432243,0.00009804998,0.003089684,0.00003969874,0.0002456813,0.0009358515],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2320439,"threshold_uncertainty_score":0.9994698,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04855571529585877,"score_gpt":0.3486010466619793,"score_spread":0.3000453313661205,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}