{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004634771,0.0005293306,0.0003215803,0.001732129,0.0004625112,0.0003906411,0.0003198521,0.001217224,0.001127251],"category_scores_gemma":[0.003272849,0.0001528148,0.0001598756,0.0006053059,0.000616819,0.0004331605,0.000382982,0.0004812044,0.0002787678],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003186727,"about_ca_system_score_gemma":0.0002385133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001092447,"about_ca_topic_score_gemma":0.0009976702,"domain_scores_codex":[0.9996476,0.0001162452,0.00003945762,0.00005570013,0.00007712766,0.00006393876],"domain_scores_gemma":[0.9994432,0.0002845066,0.00009089581,0.00002148414,0.00005800363,0.0001018586],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006557032,0.0000870307,0.4469251,0.0001902168,0.00006303248,0.4182274,0.001195958,0.0009444964,0.07064751,0.001801584,0.002999566,0.05626238],"study_design_scores_gemma":[0.0000559445,0.0003949304,0.2558362,0.0002190209,0.00008253352,0.7112265,0.001070786,0.002737686,0.02035115,0.002247649,0.005729948,0.00004771378],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.987389,0.002939842,0.002337132,0.001702238,0.00004522734,0.00002491543,0.0001681289,0.00009327819,0.005300262],"genre_scores_gemma":[0.9960932,0.001069192,0.002104519,0.000208171,0.0000798692,0.000009389317,0.0001109579,0.000009948071,0.0003146327],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001732129,"threshold_uncertainty_score":0.003771007,"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."}}