{"id":"W2347098543","doi":"10.1186/s12891-016-1058-z","title":"Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies","year":2016,"lang":"en","type":"article","venue":"BMC Musculoskeletal Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier universitaire de Québec; Université Laval","funders":"State Education Development Agency Republic of Latvia; European Regional Development Fund","keywords":"Limb-girdle muscular dystrophy; Genetics; Mutation; Dysferlin; Medicine; Compound heterozygosity; Gene mutation; Muscular dystrophy; Allele; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001646003,0.0002759493,0.0002767305,0.00008015589,0.0001366223,0.000009170894,0.0003036703,0.0002554848,0.00008708862],"category_scores_gemma":[0.0005278866,0.000211957,0.0004620585,0.0001421219,0.0003186869,0.00001663125,0.000127648,0.00006142839,0.00001666185],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001241636,"about_ca_system_score_gemma":0.0001351893,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001881463,"about_ca_topic_score_gemma":0.0001198737,"domain_scores_codex":[0.9984364,0.0001059347,0.0003395427,0.000545387,0.0001351446,0.0004375796],"domain_scores_gemma":[0.999016,0.00008635622,0.0001765866,0.0004937738,0.0001521736,0.00007513893],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001870389,0.0003528237,0.01752788,0.0007235849,0.0003362328,4.841133e-7,0.00006339785,0.001246395,0.954187,0.00208317,0.002134953,0.01947373],"study_design_scores_gemma":[0.02856094,0.0205849,0.6534367,0.0007779856,0.000942602,0.00001843349,0.002083267,0.001267517,0.1367101,0.01984573,0.1290654,0.006706463],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9644789,0.001095316,0.03272713,0.0001787053,0.0003075933,0.0005231544,0.00004349448,0.00003486807,0.0006108223],"genre_scores_gemma":[0.9952093,0.0005549563,0.003289147,0.00007408702,0.0001772957,0.0001062295,0.0001389336,0.00005139074,0.000398609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8174769,"threshold_uncertainty_score":0.8643354,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01737323526989062,"score_gpt":0.2633833132509468,"score_spread":0.2460100779810562,"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."}}