{"id":"W2164513579","doi":"10.1186/2040-2392-5-28","title":"Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders","year":2014,"lang":"en","type":"article","venue":"Molecular Autism","topic":"S100 Proteins and Annexins","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Holland Bloorview Kids Rehabilitation Hospital; Hospital for Sick Children; University of Toronto","funders":"Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles; David Geffen School of Medicine, University of California, Los Angeles; Ontario Ministry of Research and Innovation; Medical Research Council; Canadian Institutes of Health Research; Hospital for Sick Children; Universidade de Lisboa; University of Toronto; Universidade de Coimbra; Fondation de France; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Autism Speaks; Sick Kids Foundation; Ontario Genomics Institute; National Institutes of Health; Ontario Genomics; Fondation FondaMental; Hussman Foundation; Health Research Board; Wellcome Trust; Genome Canada; Children's Hospital of Philadelphia; Fondation Orange; National Institute of Mental Health; Fondation pour la Recherche Médicale; University of Ottawa; Deutsche Forschungsgemeinschaft; Ontario Innovation Trust","keywords":"Gene duplication; Copy-number variation; Genetics; Autism; Autism spectrum disorder; Candidate gene; Biology; Bioinformatics; Gene; Medicine; Genome; Psychiatry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003752785,0.0003605009,0.000303455,0.001635281,0.0003475093,0.0002824148,0.0003736857,0.0005410472,0.001934974],"category_scores_gemma":[0.001664198,0.0001559327,0.0002186484,0.0006996775,0.0004403751,0.0001672537,0.0004622717,0.0002433693,0.0002324735],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000225666,"about_ca_system_score_gemma":0.0002203064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000775384,"about_ca_topic_score_gemma":0.0006893818,"domain_scores_codex":[0.9996004,0.00005196516,0.00005614023,0.0001518545,0.0001055559,0.00003419004],"domain_scores_gemma":[0.9990779,0.0003579804,0.0003768869,0.00004272413,0.00007186691,0.00007268064],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008603089,0.00008242555,0.8861014,0.0002666682,0.0002238735,0.008862669,0.000409116,0.0007082251,0.07029093,0.0002885785,0.0003184576,0.0315874],"study_design_scores_gemma":[0.00005271141,0.0002946749,0.9308347,0.00005391816,0.0002735014,0.05289638,0.000204861,0.001014203,0.01244961,0.0006380864,0.001271562,0.00001583191],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981615,0.001006375,0.0004360679,0.00003563744,0.000003298121,0.000005969061,0.0001129286,0.00001558835,0.0002226402],"genre_scores_gemma":[0.9989533,0.000285099,0.0005339444,0.00001040926,0.000008288782,0.000005769801,0.0001270049,0.000002749104,0.00007340223],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001934974,"threshold_uncertainty_score":0.006473124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003924381616149668,"score_gpt":0.2159618282949935,"score_spread":0.2120374466788438,"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."}}