{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005872217,0.0002831891,0.001289138,0.0002060155,0.00003389165,0.000003820465,0.0001745569,0.0002459271,0.00005617509],"category_scores_gemma":[0.0003924468,0.0001698437,0.0001234541,0.0002603407,0.000522079,0.00001310739,0.00003353553,0.0004029561,3.677862e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001987971,"about_ca_system_score_gemma":0.0001494394,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001723382,"about_ca_topic_score_gemma":0.00001196264,"domain_scores_codex":[0.9980279,0.0004217596,0.0008501629,0.0002765336,0.0002652432,0.0001583576],"domain_scores_gemma":[0.9987113,0.0001072032,0.0008496438,0.0001429368,0.0001069796,0.00008194476],"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":[0.001699397,0.0001587379,0.0006491824,0.008764301,0.0003620443,0.0001167484,0.00582337,0.00001073998,0.0225756,0.0003734368,0.0002008214,0.9592656],"study_design_scores_gemma":[0.006290297,0.002226375,0.006724749,0.006859152,0.001076174,0.0003268625,0.001166768,0.0000733168,0.000005635497,0.0001924006,0.9747356,0.0003226622],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01895863,0.9791865,0.0005800282,0.0007147898,0.0001491059,0.0003506444,0.000008861709,0.000001305446,0.00005008377],"genre_scores_gemma":[0.01074377,0.9881091,0.0001318757,0.0002677654,0.0005226053,0.00001069081,0.0001693433,0.00002191691,0.00002297712],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9745348,"threshold_uncertainty_score":0.6926026,"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."}}