{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004475174,0.0007416161,0.0004520857,0.001916261,0.003295499,0.0008344174,0.0008658494,0.0004403988,0.002335889],"category_scores_gemma":[0.001670096,0.0003560433,0.000418649,0.002256785,0.0007704121,0.0002026441,0.00072169,0.0005385589,0.0003098022],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005987233,"about_ca_system_score_gemma":0.008480622,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9132951,"about_ca_topic_score_gemma":0.9182258,"domain_scores_codex":[0.9991521,0.00003134005,0.00003488768,0.0002377655,0.0003641181,0.0001798256],"domain_scores_gemma":[0.9991172,0.00008353988,0.0001117332,0.00005688086,0.000411271,0.000219401],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002499321,0.00006406813,0.9677315,0.00004463379,0.000110523,0.004598298,0.001997935,0.0003581996,0.008233895,0.000346892,0.002338949,0.01392513],"study_design_scores_gemma":[0.00001631972,0.00006845914,0.9902177,0.0000214715,0.00007332025,0.005204485,0.0007094974,0.0004623093,0.0005608394,0.00005486575,0.00257482,0.00003578087],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948629,0.0003290841,0.0002517613,0.0001083334,0.000008978646,0.00005216912,0.00230227,0.00001518156,0.002069391],"genre_scores_gemma":[0.9965323,0.0003713642,0.0005086156,0.00008786233,0.000006789478,0.00002067524,0.001567352,0.00001390579,0.0008911474],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08670491,"threshold_uncertainty_score":0.174431,"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."}}