{"id":"W2079259619","doi":"10.1038/gim.2012.107","title":"Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling","year":2012,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":120,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre for Movement Disorders","funders":"National Center for Research Resources; National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke","keywords":"Disease; Penetrance; Medicine; Glucocerebrosidase; Family history; Genetic counseling; Parkinson's disease; Genetic testing; Age of onset; Pediatrics; Internal medicine; Genetics; Biology","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":[0.001012079,0.0001790905,0.0003200742,0.0005068256,0.00006483918,0.00001565182,0.0001221057,0.0001143359,0.00008363355],"category_scores_gemma":[0.0009893019,0.0001620284,0.00004699232,0.000512881,0.0001407709,0.0001555653,0.00002633919,0.0003005528,0.00002502061],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002797203,"about_ca_system_score_gemma":0.0001047147,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001353431,"about_ca_topic_score_gemma":0.00008108118,"domain_scores_codex":[0.9978944,0.00009603841,0.000598976,0.0002135542,0.000639241,0.0005577555],"domain_scores_gemma":[0.998839,0.0001720704,0.0001258383,0.0003398439,0.0001674853,0.0003557622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001221907,0.0002516267,0.7808212,0.0006251296,0.00003765834,0.000106138,0.01730241,0.003244112,0.0007140464,0.00008749595,0.002586731,0.1930015],"study_design_scores_gemma":[0.007708536,0.0004191514,0.873773,0.0003339852,0.00009019095,0.00001708839,0.00331352,0.01536357,0.0001806419,0.00077828,0.09777439,0.0002476541],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9658726,0.01931177,0.01199262,0.0005727994,0.0003916852,0.001518981,0.0000163349,0.00002828898,0.0002948652],"genre_scores_gemma":[0.9878103,0.006063247,0.004742969,0.0003727864,0.0005049183,0.0001939719,0.0002422759,0.00002871896,0.00004088394],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1927539,"threshold_uncertainty_score":0.6607324,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03348875763238483,"score_gpt":0.3226028723360089,"score_spread":0.2891141147036241,"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."}}