{"id":"W2065738357","doi":"10.1017/s0317167100011896","title":"A Population-Based Study of Dystrophin Mutations in Canada","year":2011,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; Memorial University of Newfoundland; Hotel Dieu Hospital; Queen's University; University of Manitoba; University of Alberta; Stollery Children's Hospital; Alberta Children's Hospital; Izaak Walton Killam Health Centre; London Health Sciences Centre; McMaster Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine; Dalhousie University; BC Children's Hospital; Health Sciences Centre; McMaster University Medical Centre; University of British Columbia; Children's Hospital of Eastern Ontario; University of Calgary","funders":"Hospital for Sick Children","keywords":"Dystrophin; Exon; Genetic testing; Genetics; Population; Point mutation; Mutation; Gene duplication; Medicine; Biology; Duchenne muscular dystrophy; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.0005746662,0.0004313973,0.0004721997,0.001818615,0.002848143,0.001009702,0.0009385116,0.0005473113,0.001805154],"category_scores_gemma":[0.001316743,0.0004522333,0.0005306703,0.004698863,0.0008105097,0.0003685477,0.0009213989,0.0005782336,0.0002700087],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01632599,"about_ca_system_score_gemma":0.01874762,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9802845,"about_ca_topic_score_gemma":0.9785272,"domain_scores_codex":[0.9988878,0.00007034986,0.00006594957,0.0002487117,0.0004289037,0.0002982128],"domain_scores_gemma":[0.9987742,0.00006276647,0.0002114021,0.00004523992,0.0005668789,0.0003394179],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003713435,0.00002387414,0.9968908,0.0000165746,0.00004112632,0.0001652664,0.0003695842,0.00005496487,0.0002825937,0.00004731111,0.000354956,0.00171571],"study_design_scores_gemma":[0.00001194293,0.00004133418,0.9978337,0.00001415607,0.00002127385,0.0003155541,0.0008220939,0.0001932634,0.00005690735,0.00001939289,0.000659847,0.00001060085],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959444,0.0002807239,0.0001260152,0.0001248246,0.000005935074,0.00005549453,0.002474908,0.000009844167,0.000977824],"genre_scores_gemma":[0.9978397,0.0002637266,0.0002367168,0.0001175128,0.000004909819,0.0000235384,0.00114328,0.000004980103,0.0003656448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01971555,"threshold_uncertainty_score":0.1184539,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0284833069098593,"score_gpt":0.2493397397804528,"score_spread":0.2208564328705935,"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."}}