{"id":"W2070595851","doi":"10.1089/gte.2006.10.229","title":"Strategy for Comprehensive Molecular Testing for Duchenne and Becker Muscular Dystrophies","year":2006,"lang":"en","type":"article","venue":"Genetic Testing","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Gene duplication; Exon; Genetics; Duchenne muscular dystrophy; Gene; Multiplex ligation-dependent probe amplification; Genetic testing; Biology; Multiplex polymerase chain reaction; Muscular dystrophy; Coding region; Intron; Copy-number variation; genomic DNA; Polymerase chain reaction; Genome","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007059959,0.0001975728,0.0001742032,0.00003303999,0.0001956948,0.00002656989,0.000100264,0.0001278166,0.000001187235],"category_scores_gemma":[0.000348271,0.0002049673,0.00007033091,0.00008165283,0.0001248123,0.000002795435,0.00006306967,0.00004997156,7.973242e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004652725,"about_ca_system_score_gemma":0.00005122628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005920746,"about_ca_topic_score_gemma":0.00001254209,"domain_scores_codex":[0.9988836,0.00002851105,0.0002228194,0.0004489693,0.00005378047,0.0003623025],"domain_scores_gemma":[0.999271,0.000141849,0.00009959774,0.0002047308,0.0002295516,0.00005330186],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004656385,0.00002959774,0.002955034,0.0001088591,0.00003350723,0.000002093088,0.000008520055,0.008539356,0.9800903,0.0001389148,0.0003315554,0.007715732],"study_design_scores_gemma":[0.01199564,0.008835881,0.441507,0.0002332318,0.0006163402,0.0002488947,0.0007673764,0.0511604,0.4246988,0.0425315,0.01415368,0.003251202],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9803756,0.002940001,0.0156983,0.00004811003,0.00005383113,0.0005400536,0.00002794548,0.00003791534,0.0002782589],"genre_scores_gemma":[0.9266435,0.000005661187,0.07261985,0.0001429537,0.0002473358,0.0001510676,0.0001103727,0.0000344592,0.00004482959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5553915,"threshold_uncertainty_score":0.8358323,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03524289088913354,"score_gpt":0.2681217509781758,"score_spread":0.2328788600890423,"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."}}