{"id":"W4386818355","doi":"10.1093/brain/awad315","title":"Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"National Eye Institute; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Canada First Research Excellence Fund; Canada Research Chairs; Government of Canada; Muscular Dystrophy Canada; Newton Fund; Canada Foundation for Innovation; European Commission; Broad Institute","keywords":"Cohort; Congenital myasthenic syndrome; Medicine; Exome sequencing; Genetic testing; Genetics; Internal medicine; Pediatrics; Phenotype; Gene; Biology; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003221996,0.0004732614,0.0003749123,0.001755941,0.0009978215,0.0008694515,0.0006467418,0.000354361,0.001760627],"category_scores_gemma":[0.001726449,0.0003356095,0.0004169792,0.001346042,0.000518663,0.0002734655,0.001020004,0.0005712286,0.0004256334],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004034963,"about_ca_system_score_gemma":0.0005930891,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008817687,"about_ca_topic_score_gemma":0.005852826,"domain_scores_codex":[0.999396,0.00008432016,0.00005166169,0.0002346298,0.0001294059,0.0001039632],"domain_scores_gemma":[0.9990265,0.0001448958,0.0002211753,0.0001262624,0.0001323427,0.0003487882],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009844377,0.00005763318,0.9904724,0.00001186787,0.00003382005,0.002466987,0.0008743213,0.0000579737,0.002705835,0.00006189622,0.0002346909,0.002923982],"study_design_scores_gemma":[0.000006410364,0.00008434751,0.9914532,0.000008026784,0.00002675709,0.007014783,0.0007835103,0.0001008641,0.0001454078,0.00002167397,0.0003447865,0.00001034191],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992983,0.00004884866,0.00007735274,0.00002068369,0.000002442699,0.00001266463,0.000183808,0.000004276848,0.0003515127],"genre_scores_gemma":[0.9989309,0.0001564,0.0001619175,0.00003026452,0.00001087043,0.00002304351,0.0005255928,0.000007558607,0.0001535484],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008817687,"threshold_uncertainty_score":0.01753271,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01792100921577667,"score_gpt":0.3104245131886011,"score_spread":0.2925035039728245,"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."}}