{"id":"W3108194675","doi":"10.3390/jpm10040241","title":"Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry","year":2020,"lang":"en","type":"article","venue":"Journal of Personalized Medicine","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Muscular Dystrophy Canada; University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Duchenne muscular dystrophy; Neuromuscular disease; Muscular dystrophy; Medicine; Phenotype; Physical medicine and rehabilitation; Disease; Genotype; Physical therapy; Internal medicine; Genetics; Biology; Gene","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":[0.0009697052,0.0002741738,0.0003493725,0.001774065,0.0008779458,0.000566286,0.0004683591,0.0003469081,0.001942327],"category_scores_gemma":[0.004143657,0.0001786595,0.0002553721,0.002448544,0.0002797692,0.0001789556,0.0004679844,0.000365976,0.0003141476],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003785114,"about_ca_system_score_gemma":0.005095598,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7115753,"about_ca_topic_score_gemma":0.8370859,"domain_scores_codex":[0.9984776,0.0001728045,0.0001202001,0.0002337688,0.0006958265,0.0002997826],"domain_scores_gemma":[0.9977524,0.0003201381,0.0006105271,0.0001470613,0.0008901107,0.0002797913],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007189337,0.00001243519,0.9956328,0.00001168233,0.00003152107,0.0001375237,0.0001083568,0.00007699003,0.0002619438,0.00005606253,0.0008320845,0.002766647],"study_design_scores_gemma":[0.000006876181,0.00002275857,0.9983252,0.00000626786,0.00001763263,0.0002690449,0.0001222307,0.0001580337,0.00008456061,0.00001664303,0.0009652742,0.000005609762],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890783,0.0004937883,0.0001663981,0.0001212017,0.00001071766,0.00004544241,0.007238214,0.00001467959,0.002831165],"genre_scores_gemma":[0.9928603,0.0002551224,0.000265768,0.00005849205,0.00000596756,0.00002652286,0.005919974,0.000007100074,0.0006007793],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2884247,"threshold_uncertainty_score":0.5802466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01199836636931132,"score_gpt":0.2268811672002464,"score_spread":0.2148828008309351,"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."}}