{"id":"W4402094383","doi":"10.1002/acn3.52127","title":"Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy","year":2024,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Hospital for Sick Children","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Human Genome Research Institute; National Institutes of Health","keywords":"Limb-girdle muscular dystrophy; Muscular dystrophy; Gene; Phenotype; Genetics; Medicine; Genetic heterogeneity; Dysferlin; Bioinformatics; Biology","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":[0.0622952,0.0008595814,0.001236824,0.005089684,0.002191366,0.002065947,0.003338268,0.003363929,0.003977241],"category_scores_gemma":[0.09705918,0.0004550799,0.001966614,0.002295197,0.001255282,0.001383966,0.004233201,0.00230345,0.001854629],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002681123,"about_ca_system_score_gemma":0.01119591,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005471339,"about_ca_topic_score_gemma":0.01465718,"domain_scores_codex":[0.971204,0.01128621,0.007193083,0.002684298,0.006172088,0.001460301],"domain_scores_gemma":[0.8521072,0.05255771,0.00739738,0.006726587,0.07714719,0.004063929],"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":[0.0009925804,0.0001432024,0.05560096,0.0104716,0.0009038646,0.009327463,0.005194437,0.002127091,0.02620737,0.005115021,0.4317353,0.4521812],"study_design_scores_gemma":[0.0003206895,0.0002505371,0.05669098,0.01958223,0.001981221,0.006447901,0.002234587,0.003860965,0.01285363,0.007065383,0.8884969,0.0002148298],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1903204,0.1685033,0.1486051,0.2701655,0.02206004,0.01939498,0.02844957,0.002122124,0.1503791],"genre_scores_gemma":[0.6063079,0.03894706,0.2236761,0.06337868,0.006270072,0.007155476,0.03304041,0.0006106201,0.02061369],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.0622952,"threshold_uncertainty_score":0.3294525,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1000644286419681,"score_gpt":0.3906623046124142,"score_spread":0.2905978759704461,"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."}}