{"id":"W4388106487","doi":"10.1016/j.nmd.2023.10.014","title":"The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research","year":2023,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Myotubular Trust; Astellas Pharma; Audentes Therapeutics","keywords":"Medicine; Translational research; Clinical trial; Missing data; Disease registry; Disease; Family medicine; Pathology; Computer science","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"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":[0.008327249,0.0004154041,0.0009040147,0.002971996,0.001395924,0.002384632,0.001170515,0.001375681,0.005577595],"category_scores_gemma":[0.00961222,0.0002231569,0.0002856151,0.002939098,0.001159032,0.002692037,0.004459893,0.001579738,0.002259585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006483489,"about_ca_system_score_gemma":0.003349871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008274947,"about_ca_topic_score_gemma":0.0007448772,"domain_scores_codex":[0.9968122,0.001653312,0.0003725708,0.0004655938,0.0003827495,0.0003136397],"domain_scores_gemma":[0.9871309,0.004203468,0.00170861,0.002092186,0.001331071,0.003533799],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002946617,0.001440496,0.5704232,0.0005138124,0.0001619123,0.01144251,0.0022659,0.00113932,0.02233317,0.05132128,0.09845948,0.2375522],"study_design_scores_gemma":[0.001356917,0.002966406,0.5802615,0.001368046,0.0005264778,0.0355506,0.007786052,0.003316247,0.01472132,0.03038709,0.3214493,0.00031002],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7321519,0.01773996,0.04295153,0.09548471,0.002928876,0.001859319,0.04793045,0.001808683,0.05714462],"genre_scores_gemma":[0.9286848,0.007104809,0.03450168,0.005952635,0.003808124,0.001778605,0.01424381,0.0003324206,0.003593231],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008327249,"threshold_uncertainty_score":0.04403919,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01540502728517044,"score_gpt":0.2567779557417164,"score_spread":0.241372928456546,"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."}}