{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001202155,0.0003990676,0.0003548211,0.0005123895,0.001281172,0.001057752,0.0007365138,0.0006951725,0.002324769],"category_scores_gemma":[0.002044859,0.0007571371,0.0004716316,0.001235573,0.0003841117,0.000567746,0.0008717971,0.00105262,0.0009758241],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008505755,"about_ca_system_score_gemma":0.0009488984,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04016814,"about_ca_topic_score_gemma":0.05504694,"domain_scores_codex":[0.9992441,0.0002313795,0.00006078456,0.0002522166,0.0001400521,0.00007150161],"domain_scores_gemma":[0.9985431,0.0002339179,0.000345011,0.0002755814,0.0003138175,0.0002886037],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002606961,0.0007405616,0.9793508,0.0001086054,0.000324186,0.0006400222,0.0009283834,0.00008985192,0.0008385362,0.0001412313,0.007845243,0.006385687],"study_design_scores_gemma":[0.0007757498,0.0003369387,0.9932203,0.00005694822,0.000269257,0.0006556778,0.00064021,0.0003298902,0.0001190597,0.00007710901,0.003497889,0.00002078998],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840525,0.000344368,0.0002820865,0.0002455201,0.00001537033,0.0003102442,0.01225165,0.00001556252,0.002482587],"genre_scores_gemma":[0.9809923,0.0004386366,0.0007715857,0.0007239886,0.00004623699,0.0006074857,0.01433432,0.00002424095,0.002061197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04016814,"threshold_uncertainty_score":0.07986867,"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."}}