{"id":"W3020884142","doi":"10.1136/jmedgenet-2019-106641","title":"Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients","year":2020,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; McMaster University; London Health Sciences Centre","funders":"","keywords":"Copy-number variation; Genetics; Mendelian inheritance; Gene duplication; Biology; Gene; Genetic testing; Exome sequencing; Sequence (biology); Genetic heterogeneity; OMIM : Online Mendelian Inheritance in Man; Bioinformatics; Mutation; Phenotype; Genome","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001775381,0.0001349098,0.0004234565,0.0001347136,0.0000387034,0.0000171045,0.000427945,0.0001071334,0.0002120421],"category_scores_gemma":[0.00420385,0.0001135549,0.0001292018,0.0005472888,0.0002992163,0.00004213219,0.00006980627,0.0002992582,0.000002798941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003478413,"about_ca_system_score_gemma":0.000526118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001182818,"about_ca_topic_score_gemma":0.001375586,"domain_scores_codex":[0.9976155,0.0001894365,0.0006305815,0.0002657106,0.0009663795,0.0003324453],"domain_scores_gemma":[0.997336,0.0005155286,0.0002350095,0.0001209397,0.0001571709,0.001635363],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001221705,0.00008882554,0.9952142,0.00005203971,0.00004205575,0.0002676411,0.0001272548,0.001564577,0.0004985227,0.00001708825,0.000238777,0.001766814],"study_design_scores_gemma":[0.001362861,0.0005431813,0.9540132,0.00002462084,0.0002151421,0.000006764064,0.00002029797,0.0386072,0.0003328054,0.0002554257,0.00447021,0.0001482654],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994422,0.0002318564,0.0004722442,0.004346559,0.0001109118,0.0002716508,0.0001203925,0.000003265026,0.00002111942],"genre_scores_gemma":[0.9922,0.001088017,0.0003837173,0.006240998,0.00006558683,0.000004264849,0.000003870699,0.00001152149,0.000002030422],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.041201,"threshold_uncertainty_score":0.5032705,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04876581059408354,"score_gpt":0.3036833615817918,"score_spread":0.2549175509877083,"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."}}