{"id":"W4401158013","doi":"10.1093/brain/awae142","title":"Parkinson’s disease variant detection and disclosure: PD GENEration, a North American study","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":89,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; School of Medicine, Indiana University; Parkinsonfonden; Genentech; National Institutes of Health; CurePSP; Servier; Cleveland Clinic Foundation; Farmer Family Foundation; Biogen; Northwestern University; Amneal Pharmaceuticals; Sutter Health; Parkinson Study Group; Sunovion; Lewy Body Dementia Association; Barrow Neurological Foundation; University of Toronto; Cleveland Clinic; Parkinson's Foundation; Teva Pharmaceutical Industries; Jazz Pharmaceuticals; CHDI Foundation; Eli Lilly and Company; U.S. Department of Defense; Sanofi; UCB Pharma; Revance; Michael J. Fox Foundation for Parkinson's Research","keywords":"LRRK2; Genetic testing; Disease; Medicine; Medical genetics; Population; Precision medicine; Genetic counseling; Clinical trial; Personalized medicine; Parkinson's disease; Family medicine; Gerontology; Genetics; Internal medicine; Gene; Biology; Pathology; Environmental health","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009823564,0.00014935,0.0001673072,0.0001005844,0.0001057467,0.0000782128,0.00002705809,0.00001437417,0.00002816179],"category_scores_gemma":[0.00005413953,0.000116405,0.00005510868,0.000281786,0.00003367784,0.00007272748,0.00002489593,0.00007247488,0.00003365497],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006464446,"about_ca_system_score_gemma":0.00008431596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001391608,"about_ca_topic_score_gemma":0.0008095495,"domain_scores_codex":[0.9990153,0.0000688803,0.0001367936,0.000411767,0.000203971,0.0001632981],"domain_scores_gemma":[0.9994079,0.00002779608,0.00002766548,0.0002067611,0.00002316475,0.0003066651],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007424416,0.002784471,0.5796756,0.0001886562,0.001127781,0.007677606,0.002013806,0.00001303894,0.002973015,0.0003378195,0.003572627,0.3988931],"study_design_scores_gemma":[0.0009428476,0.0005591819,0.9630359,0.0000213043,0.0003906685,0.000037369,0.00009872144,0.004694024,0.00007944914,0.00007532076,0.02993436,0.0001308501],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995645,0.0006957434,0.001398208,0.001230018,0.0001813579,0.0006061535,0.00005652324,0.0001330343,0.00005392638],"genre_scores_gemma":[0.9984171,0.00004440627,0.0001307179,0.0003663937,0.0002922522,0.0001629188,0.00004931312,0.00002737099,0.0005095692],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3987623,"threshold_uncertainty_score":0.4746856,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01603454868867756,"score_gpt":0.2672811064233676,"score_spread":0.2512465577346901,"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."}}