{"id":"W4409947795","doi":"10.1007/s12035-025-04996-1","title":"Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers","year":2025,"lang":"en","type":"article","venue":"Molecular Neurobiology","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill Genome Centre; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Canada First Research Excellence Fund; Consortium canadien en neurodégénérescence associée au vieillissement; McGill University; National Center for Advancing Translational Sciences; Michael J. Fox Foundation for Parkinson's Research","keywords":"Glucocerebrosidase; Parkinson's disease; Cohort; Single-nucleotide polymorphism; Genome-wide association study; Biology; Genetics; Genetic association; Disease; Internal medicine; Medicine; Oncology; Gene; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0009944683,0.0004114923,0.0005417626,0.001003753,0.0006933269,0.0007436582,0.0005203201,0.0007435749,0.001950909],"category_scores_gemma":[0.002780359,0.000266214,0.0008026039,0.002109197,0.0003813274,0.0001690582,0.0005264577,0.0008937964,0.0001849637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003080554,"about_ca_system_score_gemma":0.000527707,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02553725,"about_ca_topic_score_gemma":0.02244135,"domain_scores_codex":[0.9991698,0.0002573075,0.0000635906,0.0003114466,0.0001081752,0.00008964377],"domain_scores_gemma":[0.9984409,0.0005481456,0.0003948145,0.0001831535,0.0001774946,0.0002554753],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001102913,0.00008413471,0.9886858,0.00004191008,0.001871074,0.0005009746,0.0001342599,0.0002195715,0.003004575,0.0001246472,0.0004944392,0.003735695],"study_design_scores_gemma":[0.00005078441,0.00006871668,0.998348,0.000007429254,0.0004766802,0.0001941791,0.0000451521,0.0003188038,0.0001278872,0.00005967169,0.0002969207,0.000005774691],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976115,0.0008818746,0.0002289519,0.0001352897,0.000016467,0.000009809892,0.0006065707,0.00001462522,0.0004949978],"genre_scores_gemma":[0.9982248,0.0003343945,0.0003045622,0.00005090737,0.00001628673,0.00001281607,0.0006502187,0.000007665849,0.0003982993],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02553725,"threshold_uncertainty_score":0.0507772,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01273380959071306,"score_gpt":0.2941375747727793,"score_spread":0.2814037651820662,"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."}}