{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001782999,0.0009971225,0.0005788322,0.0012914,0.00048546,0.0003480213,0.0008257095,0.001377079,0.002171909],"category_scores_gemma":[0.0007473425,0.0002743639,0.0005821679,0.00059665,0.0009735284,0.0002119134,0.0003728989,0.0004415355,0.0008026123],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005575372,"about_ca_system_score_gemma":0.000308209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005673853,"about_ca_topic_score_gemma":0.005094945,"domain_scores_codex":[0.9996626,0.00003400573,0.00004172064,0.0001125311,0.00008876034,0.00006029894],"domain_scores_gemma":[0.9996778,0.00006804244,0.0001186627,0.00002253503,0.00002693507,0.00008600895],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001081733,0.0002972432,0.05919499,0.0002211947,0.0002675132,0.7029833,0.0007175654,0.0005127728,0.2252401,0.0005273707,0.0008277069,0.008128407],"study_design_scores_gemma":[0.0001469203,0.000816602,0.4190029,0.0000527798,0.0002007448,0.56441,0.0003811782,0.0007119472,0.01184837,0.0002065108,0.002170564,0.00005146848],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997015,0.0006207449,0.0002989874,0.0001543618,0.00002835709,0.00003086022,0.0003514111,0.00003087306,0.001469387],"genre_scores_gemma":[0.9979377,0.0001879198,0.0003150319,0.00008484268,0.00004016381,0.000008933564,0.0002765545,0.00001097057,0.001137912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005673853,"threshold_uncertainty_score":0.01128167,"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."}}