{"id":"W4289929477","doi":"10.1016/j.nmd.2022.08.001","title":"Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype","year":2022,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Office of Research Infrastructure Programs, National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Conselho Nacional de Desenvolvimento Científico e Tecnológico; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Fundação de Amparo à Pesquisa do Estado de São Paulo","keywords":"Tandem exon duplication; Exon; Gene duplication; Dystrophin; Duchenne muscular dystrophy; Biology; Skeletal muscle; Myopathy; Gene; Genetics; Molecular biology; Muscular dystrophy; Southern blot; genomic DNA; Anatomy","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004860401,0.0001792157,0.0001695724,0.00004504401,0.0002875732,0.00001258609,0.0004097151,0.00009932145,0.00005110807],"category_scores_gemma":[0.0001165193,0.0001420452,0.0001270079,0.0003601397,0.0002195868,0.00000577841,0.0001916388,0.0004056611,0.000006254055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000135275,"about_ca_system_score_gemma":0.0001283017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001056215,"about_ca_topic_score_gemma":0.0005566675,"domain_scores_codex":[0.9982146,0.0004526763,0.0002923705,0.0005673869,0.0002162483,0.0002567437],"domain_scores_gemma":[0.9991146,0.00003952675,0.0001373208,0.0006243712,0.00002666358,0.00005753253],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01115731,0.004403526,0.605796,0.0001115472,0.001036059,0.00005634336,0.002251823,0.07858334,0.2401172,0.003912069,0.01709814,0.03547672],"study_design_scores_gemma":[0.008791862,0.004567371,0.8688917,0.00001156301,0.000141663,0.00002521669,0.002379112,0.001454892,0.003381367,0.002056228,0.1071306,0.001168441],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965281,0.000579789,0.0002699868,0.001457572,0.0002099912,0.0004607188,0.000008872888,0.00002090951,0.000464078],"genre_scores_gemma":[0.9966757,0.000228122,0.000100375,0.00250347,0.00005703198,0.0001494491,0.0001445554,0.00003489619,0.0001064432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2630958,"threshold_uncertainty_score":0.5792435,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01195791346012347,"score_gpt":0.2555778693626256,"score_spread":0.2436199559025021,"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."}}