{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002642138,0.0001591997,0.0003078245,0.0003083067,0.00008900964,0.000006236313,0.000375962,0.000213178,0.0001455143],"category_scores_gemma":[0.003626511,0.000108072,0.00002644988,0.002277661,0.0003061547,0.00004852877,0.00008733277,0.0007648881,0.00007978359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004353342,"about_ca_system_score_gemma":0.00007757988,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000274612,"about_ca_topic_score_gemma":0.00002080506,"domain_scores_codex":[0.9977636,0.0001904047,0.0001957428,0.0003981037,0.0009936874,0.0004584914],"domain_scores_gemma":[0.998371,0.001039729,0.0001108072,0.0003507987,0.00001707697,0.0001105851],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003171669,0.000506376,0.01567454,0.0007024909,0.0001453401,0.00303134,0.004098652,0.00007749536,0.8508009,0.09761346,0.01079184,0.01624039],"study_design_scores_gemma":[0.003491008,0.001062824,0.9115294,0.000558812,0.0000559826,0.00002321688,0.00001673763,0.001554186,0.05925834,0.02183136,0.0004037206,0.0002144471],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9831844,0.0008062584,0.0002317629,0.01045717,0.0005061322,0.000588473,0.000007209566,0.0002857052,0.003932913],"genre_scores_gemma":[0.9978927,0.0001126342,0.00002928312,0.0005164447,0.00005466762,0.0000192232,0.00000680586,0.00003479313,0.001333395],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8958548,"threshold_uncertainty_score":0.4407047,"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."}}