{"id":"W4404706166","doi":"10.1212/nxg.0000000000200194","title":"Adult Phenotype of <i>CHD2</i> -Associated Disorders","year":2024,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University Health Network Foundation; Centers for Disease Control and Prevention; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; Multidisciplinary University Research Initiative; Novo Nordisk; Eisai; Dravet Syndrome Foundation; GW Pharmaceuticals; University of Toronto; National Science Foundation","keywords":"Phenotype; Biology; Genetics","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000726887,0.0001902765,0.000152396,0.00006935584,0.00004563484,0.00001495914,0.000239241,0.0002151645,0.0000262058],"category_scores_gemma":[0.00005788539,0.0001964556,0.0001063365,0.0001848425,0.0001622224,0.000001596545,0.0001452771,0.0001439656,0.00002422391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003342132,"about_ca_system_score_gemma":0.00008949318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008747919,"about_ca_topic_score_gemma":0.0001400051,"domain_scores_codex":[0.9987719,0.00006821613,0.000267043,0.0004520943,0.0001419498,0.0002987809],"domain_scores_gemma":[0.9995054,0.00002021231,0.00005360458,0.0002852647,0.00006911249,0.00006641159],"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":[0.0001135513,0.0002001277,0.01647679,0.00007110422,0.0001542345,0.00000983234,0.0001065198,0.0006813075,0.95849,0.0004179202,0.009035313,0.01424333],"study_design_scores_gemma":[0.002530811,0.006366377,0.3409632,0.00005267002,0.0002383695,0.00005284277,0.00007077567,0.004025641,0.3243882,0.005287331,0.3144861,0.001537556],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927837,0.002696486,0.0002826359,0.0006039398,0.0007176938,0.00015384,0.00003436163,0.00003268021,0.002694705],"genre_scores_gemma":[0.9950142,0.00308792,0.0002056563,0.001269353,0.00003340568,0.00001259129,0.00008193464,0.00005085793,0.0002440848],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6341017,"threshold_uncertainty_score":0.8011227,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004488717427277319,"score_gpt":0.2146355613562733,"score_spread":0.2101468439289959,"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."}}