{"id":"W3081708769","doi":"10.3390/jpm10030111","title":"Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era","year":2020,"lang":"en","type":"review","venue":"Journal of Personalized Medicine","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Muscular Dystrophy Canada; University of Alberta","funders":"","keywords":"Multiplex ligation-dependent probe amplification; Dystrophin; Duchenne muscular dystrophy; Exon skipping; Muscular dystrophy; Exon; Genetics; Phenotype; Bioinformatics; Genetic testing; Personalized medicine; Medicine; Genotype-phenotype distinction; Genotype; Genetic counseling; Biology; Gene","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":[0.001591123,0.0008548806,0.001472661,0.002420628,0.0001996741,0.0009829781,0.000846027,0.001143844,0.002142303],"category_scores_gemma":[0.001628591,0.0002768847,0.0006325238,0.001860599,0.0006456095,0.001521896,0.000741419,0.002250093,0.001086614],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007799109,"about_ca_system_score_gemma":0.001005664,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008444025,"about_ca_topic_score_gemma":0.001021861,"domain_scores_codex":[0.9995703,0.0001058589,0.00005729973,0.00008634239,0.0001481572,0.00003202529],"domain_scores_gemma":[0.9989173,0.0007021912,0.00007372074,0.00003713337,0.000211545,0.00005814553],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0000671345,0.00006986451,0.0004623736,0.00751607,0.000108062,0.0003190823,0.00005948479,0.0003433955,0.002115282,0.00507774,0.01421225,0.9696492],"study_design_scores_gemma":[0.00002192087,0.0001309375,0.002276481,0.002670584,0.00025229,0.003806601,0.0000690796,0.0002848258,0.001315692,0.00456301,0.9845675,0.00004098217],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001688445,0.9978048,0.0006078402,0.0004780051,0.0001668279,0.000003988772,0.00001656916,0.00001242464,0.000740592],"genre_scores_gemma":[0.001221824,0.9966041,0.0009558323,0.0003944346,0.000293985,0.000007511731,0.00004395019,0.000004143027,0.0004742458],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002420628,"threshold_uncertainty_score":0.008414745,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01439601219365825,"score_gpt":0.2964958254022383,"score_spread":0.28209981320858,"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."}}