{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001787502,0.0001663458,0.00015464,0.00005760508,0.00007242427,0.00001316661,0.0003742604,0.0001398126,0.00002723203],"category_scores_gemma":[0.00004885304,0.0001393783,0.000164693,0.0002121868,0.0001174004,0.00000327426,0.0001857238,0.0001374353,0.000009419015],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001621555,"about_ca_system_score_gemma":0.00005310426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001173057,"about_ca_topic_score_gemma":0.0002669093,"domain_scores_codex":[0.9988255,0.0001210841,0.0002599345,0.0003616271,0.0001514437,0.0002804075],"domain_scores_gemma":[0.9990996,0.000006422483,0.0001067968,0.0007200697,0.000008772747,0.00005836722],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0000177405,0.0001789045,0.001136466,0.00001644178,0.00003124408,0.00000151499,0.00005479872,0.0003856765,0.9563969,0.03512695,0.0002541452,0.006399227],"study_design_scores_gemma":[0.001271359,0.0004208214,0.2984276,0.00007087002,0.00003375278,0.0000154598,0.00001650844,0.001420226,0.5913416,0.02910758,0.07735055,0.0005237801],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9745336,0.001257898,0.01279247,0.008041101,0.0002509952,0.0004560101,0.00002405495,0.00001608243,0.002627762],"genre_scores_gemma":[0.9988273,0.0001127331,0.0003910812,0.0002482086,0.00001463516,0.0000567622,0.00004336487,0.00002689665,0.0002790144],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3650554,"threshold_uncertainty_score":0.568368,"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."}}