{"id":"W2162924547","doi":"10.1212/01.wnl.0000258561.02248.2f","title":"Genetic diagnosis in Lafora disease","year":2007,"lang":"en","type":"article","venue":"Neurology","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"False positive paradox; Lafora disease; Genotype; Disease; Mutation; Medicine; Genetics; Biology; Pathology; Gene","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":[0.00006336156,0.00008329493,0.0001424507,0.0001148312,0.00001763111,0.000002809297,0.00005110574,0.00005811268,0.0002338648],"category_scores_gemma":[0.00008826993,0.00007732581,0.00006252713,0.0001284609,0.00004355792,0.00001482645,0.0000274859,0.0001298991,0.00009337909],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001042765,"about_ca_system_score_gemma":0.00003980807,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009883476,"about_ca_topic_score_gemma":0.00009786672,"domain_scores_codex":[0.9992242,0.00002120804,0.0001534461,0.0002141989,0.00009438077,0.0002925295],"domain_scores_gemma":[0.9993974,0.00006655988,0.00002311171,0.0002112425,0.00002145626,0.0002802541],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001597138,0.0002632067,0.8778901,0.00002671118,0.000007749201,0.1095261,0.00002762252,0.000012512,0.0001611101,0.0001337617,0.0008494565,0.009504627],"study_design_scores_gemma":[0.0009370113,0.0004060366,0.9613938,0.000004656427,0.00004655455,0.0004614164,0.00000246906,0.00005190198,0.00004319874,0.0001473138,0.03644245,0.00006319624],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958594,0.0008767369,0.00004177768,0.001934263,0.0002100016,0.0002001801,0.000005059911,0.00003558465,0.0008369785],"genre_scores_gemma":[0.989956,0.00009724963,0.00007113098,0.009609516,0.0001544933,0.0000280116,0.000006575943,0.00001548486,0.00006160044],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1090647,"threshold_uncertainty_score":0.3153255,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01117705509379855,"score_gpt":0.2667264766081058,"score_spread":0.2555494215143072,"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."}}