{"id":"W3137865019","doi":"10.1002/ajmg.a.62167","title":"Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Agricultural Research Institute of Ontario","funders":"","keywords":"Genetic testing; Exome sequencing; Newborn screening; Etiology; Test (biology); Medical genetics; Medicine; Genetics; Biology; Pediatrics; Mutation; Pathology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001313897,0.0002296129,0.0002269213,0.0015936,0.002612435,0.0008886221,0.0009333467,0.0004820189,0.001705918],"category_scores_gemma":[0.006332966,0.0002626855,0.0002828829,0.004375535,0.0009669625,0.000367691,0.0009604274,0.000592634,0.0002054603],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01920321,"about_ca_system_score_gemma":0.03354643,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9795086,"about_ca_topic_score_gemma":0.9840961,"domain_scores_codex":[0.9974642,0.0001958711,0.0002080448,0.0002431627,0.001538497,0.000350153],"domain_scores_gemma":[0.9908491,0.001054045,0.002255759,0.0001492757,0.003619921,0.00207182],"domain_codex":null,"domain_gemma":"methods","domain_candidate":"methods","domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003799494,0.00002426688,0.9731504,0.0001583949,0.00002592921,0.0003681416,0.003519445,0.00011271,0.0004386894,0.0001667207,0.005027909,0.01696935],"study_design_scores_gemma":[0.00000728899,0.00004401088,0.9852356,0.0001860573,0.00002248761,0.0007292446,0.007806489,0.0003223766,0.0001529986,0.0000406778,0.005427184,0.00002561199],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.977065,0.00329985,0.0002701248,0.006900195,0.0000405865,0.00009156869,0.003731905,0.00004219889,0.008558714],"genre_scores_gemma":[0.991123,0.004278722,0.0008547766,0.001653392,0.00001382377,0.00002681515,0.0009230032,0.00001266031,0.001113757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9986861,"threshold_uncertainty_score":0.1393297,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02066398788483635,"score_gpt":0.2809957156070428,"score_spread":0.2603317277222065,"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."}}