{"id":"W2957854792","doi":"10.1016/j.nmd.2019.07.002","title":"214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015","year":2019,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation","funders":"Muscular Dystrophy UK; European Neuromuscular Centre; Prinses Beatrix Spierfonds; Cure CMD; Muskelsvindfonden; RYR-1 Foundation; Myotubular Trust; Stiftung für die Erforschung der Muskelkrankheiten; Deutsche Gesellschaft für Muskelkranke; Regeneron Pharmaceuticals","keywords":"Medicine; Multidisciplinary approach; Disease; Muscular dystrophy; Congenital muscular dystrophy; Muscle disease; Cohort; MEDLINE; Pathology; Internal medicine","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":[0.01946748,0.001120874,0.0008693165,0.002112866,0.002304976,0.005237346,0.001921333,0.004445135,0.0493512],"category_scores_gemma":[0.006684582,0.0005625847,0.001069183,0.0008370018,0.001876538,0.00208821,0.006668028,0.004790429,0.01872218],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002507129,"about_ca_system_score_gemma":0.01092702,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00788817,"about_ca_topic_score_gemma":0.0262572,"domain_scores_codex":[0.9947399,0.001766202,0.0002340522,0.0005396634,0.001333806,0.001386293],"domain_scores_gemma":[0.9884222,0.0008970264,0.0003530957,0.0004072954,0.002232606,0.007687681],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008546476,0.0003484008,0.003695454,0.0003317138,0.00006557302,0.001259431,0.0004821847,0.0004377711,0.007963534,0.004179996,0.8944208,0.08596055],"study_design_scores_gemma":[0.00008200679,0.0001670222,0.009243092,0.0003504435,0.00003564617,0.0005313934,0.0005284934,0.0002886463,0.00266581,0.001754813,0.9843155,0.00003721524],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.03763863,0.08755174,0.06747152,0.3882887,0.1817446,0.002813795,0.01371258,0.002634501,0.2181439],"genre_scores_gemma":[0.09645253,0.02065102,0.06066262,0.03254405,0.02412997,0.001964643,0.02089597,0.002519727,0.7401794],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.0493512,"threshold_uncertainty_score":0.1650962,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.047329663942406,"score_gpt":0.3842447979819709,"score_spread":0.3369151340395649,"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."}}