{"id":"W3131749091","doi":"10.1101/2021.02.12.21251621","title":"Sub-diagnostic effects of genetic variants associated with autism","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Medical Research Council; H. Lundbeck A/S; National Institutes of Health; Conny-Maeva Charitable Foundation; Canada First Research Excellence Fund; NIHR Cambridge Biomedical Research Centre; Aarhus Universitet; European Commission; National Institute for Health and Care Research; Institut de Valorisation des Données; UK Research and Innovation; Lundbeckfonden; Simons Foundation; Government of the United Kingdom; HORIZON EUROPE Framework Programme; Agence Nationale de la Recherche; Wellcome Trust; Autism Speaks; European Federation of Pharmaceutical Industries and Associations; Canadian Institutes of Health Research; Université de Paris; Compute Canada; Simons Foundation Autism Research Initiative","keywords":"Autism; Odds ratio; Genetics; Odds; Phenotype; Gene; Population; Autism spectrum disorder; Biology; Psychology; Medicine; Developmental psychology; Logistic regression; Internal medicine","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":[0.0007770546,0.0004909465,0.0006207589,0.002225487,0.0003914825,0.0007118871,0.0003790702,0.000542636,0.006085145],"category_scores_gemma":[0.003259395,0.0001761885,0.0007329359,0.001280309,0.0005644291,0.0002000642,0.0009883968,0.0005994219,0.0004362955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002215152,"about_ca_system_score_gemma":0.0001344832,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003544598,"about_ca_topic_score_gemma":0.002736066,"domain_scores_codex":[0.9984628,0.0004287224,0.0001175216,0.0005905862,0.0002612211,0.0001391797],"domain_scores_gemma":[0.9965312,0.001812524,0.0008981481,0.0003460491,0.0001235125,0.0002886419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002464539,0.00007283609,0.8963096,0.0002165327,0.001562003,0.003320678,0.0004735602,0.001271759,0.06407434,0.0008889663,0.001631912,0.02771323],"study_design_scores_gemma":[0.0000292065,0.00008327793,0.9928833,0.00002149617,0.0003103928,0.001931263,0.0000948705,0.0007573022,0.001900235,0.0009617858,0.001013746,0.00001302272],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912026,0.00135594,0.002424629,0.0002038993,0.00002264649,0.000007731895,0.003503001,0.0001243279,0.001155094],"genre_scores_gemma":[0.9976304,0.0001468088,0.0008836018,0.00005229469,0.00001240531,0.000006130494,0.001045074,0.00003894693,0.0001844833],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006085145,"threshold_uncertainty_score":0.02035689,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004878027405848198,"score_gpt":0.2069933765685988,"score_spread":0.2021153491627506,"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."}}