{"id":"W4321610269","doi":"10.1136/jmg-2022-108962","title":"Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; University of British Columbia; Hamilton Regional Laboratory Medicine Program; Health Sciences Centre; BC Children's Hospital; Children's & Women's Health Centre of British Columbia; Holland Bloorview Kids Rehabilitation Hospital; Canadian Paediatric Society; Hospital for Sick Children; Alberta Children's Hospital; Izaak Walton Killam Health Centre; Stollery Children's Hospital; University of Alberta; McGill University; McGill University Health Centre; University of Toronto; Hamilton Health Sciences; Dalhousie University; Agricultural Research Institute of Ontario; Children's Hospital of Eastern Ontario","funders":"BC Children's Hospital","keywords":"Position statement; Medical genetics; Statement (logic); Position paper; Genetic counseling; Genetics; Position (finance); Biology; Medicine; Bioinformatics; Family medicine; Pathology; Gene; Political science; Business","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.03290533,0.00188838,0.0021143,0.004318797,0.009657607,0.007846992,0.0074731,0.02896436,0.008294367],"category_scores_gemma":[0.09909371,0.001600905,0.002634894,0.003848811,0.007112659,0.003885554,0.005702373,0.02811364,0.004488101],"about_ca_system_candidate":true,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.03590843,"about_ca_system_score_gemma":0.3177818,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7423381,"about_ca_topic_score_gemma":0.8228027,"domain_scores_codex":[0.9653727,0.004550084,0.004310067,0.002540733,0.01866353,0.004562938],"domain_scores_gemma":[0.7714013,0.02347497,0.00734636,0.004034468,0.1594385,0.03430441],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001804472,0.00002672319,0.0008551794,0.0002546752,0.00001885381,0.0001050336,0.000192192,0.00008565981,0.0001497231,0.002145076,0.9767622,0.01938655],"study_design_scores_gemma":[0.00009439269,0.00003767875,0.004517951,0.00405207,0.00008528434,0.000335502,0.0006672515,0.0001907374,0.0002240075,0.002806184,0.9868658,0.0001231284],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.0006840095,0.01905661,0.001710456,0.9028961,0.04679807,0.0007142573,0.002078356,0.0001439196,0.02591825],"genre_scores_gemma":[0.01717724,0.0604779,0.03623583,0.773263,0.0470726,0.00142828,0.00680425,0.000456432,0.05708451],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.9640915,"threshold_uncertainty_score":0.5183587,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01282111810002375,"score_gpt":0.271716102357544,"score_spread":0.2588949842575202,"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."}}