{"id":"W4382139278","doi":"10.1038/s41591-023-02408-2","title":"Phenotypic effects of genetic variants associated with autism","year":2023,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research; National Institutes of Health; Université de Paris; Institut de Valorisation des Données; H. Lundbeck A/S; Autism Speaks; Canada First Research Excellence Fund; Medical Research Council; Medical Research Council Canada; Université Paris Diderot; Agence Nationale de la Recherche; Københavns Universitet; National Institute for Health and Care Research; Conny-Maeva Charitable Foundation; UK Research and Innovation; Innovative Medicines Initiative; Institut Pasteur; Compute Canada; Lundbeckfonden; Simons Foundation; Government of the United Kingdom; Medical Research Foundation; HORIZON EUROPE Framework Programme; Autistica; European Federation of Pharmaceutical Industries and Associations; NIHR Cambridge Biomedical Research Centre; Templeton World Charity Foundation; Wellcome; European Commission; National Institute of Mental Health; Horizon 2020 Framework Programme; Aarhus Universitet; Fondation Bettencourt Schueller; Wellcome Trust; Simons Foundation Autism Research Initiative","keywords":"Phenotype; Genetics; Autism; Biology; Computational biology; Medicine; Gene; 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":[0.001092531,0.0005534869,0.0003915376,0.001356425,0.0003423395,0.0006180232,0.0003724268,0.00060897,0.002810335],"category_scores_gemma":[0.007623219,0.0002004329,0.0007005509,0.0009568599,0.0008716596,0.0002557129,0.0008492614,0.0006290789,0.0001968127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002355608,"about_ca_system_score_gemma":0.0001462128,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003222976,"about_ca_topic_score_gemma":0.003211318,"domain_scores_codex":[0.997787,0.0009855609,0.0002016627,0.0006206642,0.0002657899,0.0001392471],"domain_scores_gemma":[0.9949853,0.002663074,0.001515429,0.0003752958,0.0001556436,0.0003053055],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001144614,0.00003896072,0.9793438,0.00005484636,0.0008675402,0.001824055,0.0002215196,0.0008696538,0.008681537,0.0003118676,0.0002058991,0.006435746],"study_design_scores_gemma":[0.000009681096,0.0001073143,0.996904,0.00001523184,0.0001347147,0.001456475,0.00009275554,0.0004413023,0.0003507524,0.0003033887,0.0001748166,0.000009500603],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977793,0.0004740752,0.0005242757,0.0001043273,0.00000857904,0.000003840507,0.0005340704,0.00001670726,0.0005547213],"genre_scores_gemma":[0.9993373,0.00006613762,0.0002842934,0.00002096959,0.000005643404,0.000003031276,0.0002092353,0.000007773658,0.00006562706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003222976,"threshold_uncertainty_score":0.0094015,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01255989374969724,"score_gpt":0.2906630926335336,"score_spread":0.2781031988838363,"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."}}