{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002888606,0.001029921,0.0003512972,0.0009255418,0.0004583658,0.0004667484,0.000325573,0.000706452,0.007443517],"category_scores_gemma":[0.001341529,0.0001057131,0.0002556986,0.000969478,0.0003091552,0.0001849811,0.0003163066,0.0003684735,0.0005758972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001909153,"about_ca_system_score_gemma":0.0002423451,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002687826,"about_ca_topic_score_gemma":0.002866822,"domain_scores_codex":[0.9996564,0.00004820588,0.00005481625,0.0001174227,0.00007714173,0.00004599179],"domain_scores_gemma":[0.9995205,0.0001409408,0.0001908478,0.00002093011,0.0000601674,0.0000665461],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002789552,0.0001737719,0.8805478,0.0004007125,0.0004126282,0.03031237,0.0006043353,0.0006110868,0.03791726,0.001749653,0.009010583,0.03547022],"study_design_scores_gemma":[0.0002367294,0.0003796483,0.9115946,0.0003326816,0.0005325467,0.0672545,0.0002690646,0.0007577746,0.005800322,0.0009145032,0.01188619,0.00004140243],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9778312,0.002012107,0.001607894,0.0004800904,0.0001203095,0.0001035024,0.008879037,0.00008634737,0.008879438],"genre_scores_gemma":[0.9924475,0.0004480646,0.001546439,0.0002527955,0.0001477527,0.00005544152,0.003662551,0.00002596525,0.00141345],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007443517,"threshold_uncertainty_score":0.02490103,"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."}}