{"id":"W3113240410","doi":"10.1101/2020.12.14.20224378","title":"Genome-wide association studies of LRRK2 modifiers of Parkinson's disease","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Occupational Cancer Research Centre; Toronto Western Hospital; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Morsani College of Medicine; School of Medicine, Stanford University; National Institutes of Health; Sorbonne Université; St. Olavs Hospital Universitetssykehuset i Trondheim; Universitat de Barcelona; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Centre National de la Recherche Scientifique; Institut National de la Santé et de la Recherche Médicale; Deutsche Forschungsgemeinschaft; Google; University College Dublin; University of Reading; Clinical and Translational Science Institute, University of Florida; Parkinson's Foundation; Little Family Foundation; University of Pennsylvania; Weston Brain Institute; Eberhard Karls Universität Tübingen; Johns Hopkins University; University of Washington; Center for Individualized Medicine, Mayo Clinic; Deutsches Zentrum für Neurodegenerative Erkrankungen; McKnight Foundation; University of Miami; Sol Goldman Charitable Trust; American Parkinson Disease Association; Oracle; Consortium canadien en neurodégénérescence associée au vieillissement; Alzheimer's Association; Parkinson's Disease Foundation; Vagelos College of Physicians and Surgeons, Columbia University; Leonard M. Miller School of Medicine; University of Toronto; U.S. Department of Veterans Affairs; Sagol School of Neuroscience, Tel Aviv University; University of California, San Francisco; Brookdale Foundation; Tel Aviv University; Mayo Clinic; Michael J. Fox Foundation for Parkinson's Research; University of South Florida; U.S. Department of Defense","keywords":"Penetrance; LRRK2; Genetics; Disease; Parkinson's disease; Genome-wide association study; Allele; Genetic association; Biology; Mutation; Medicine; Oncology; Internal medicine; Gene; Single-nucleotide polymorphism; Genotype; Phenotype","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":[0.002094506,0.0006202154,0.0007740441,0.001178403,0.0003584175,0.0006499075,0.0005348827,0.0006344845,0.002442002],"category_scores_gemma":[0.003901677,0.0001764239,0.001015235,0.001786225,0.000375061,0.0002100374,0.0006128714,0.0004930163,0.0002009998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002212199,"about_ca_system_score_gemma":0.0003661528,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003303396,"about_ca_topic_score_gemma":0.004212917,"domain_scores_codex":[0.9985036,0.0005601377,0.0001280151,0.0005154625,0.0001828455,0.0001100436],"domain_scores_gemma":[0.9973257,0.001157722,0.0010188,0.000189414,0.0001610138,0.0001474533],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001154363,0.00007134105,0.9794899,0.0002001577,0.004340811,0.0007599102,0.0001234106,0.0006107393,0.005509262,0.0001111958,0.0002625974,0.007366321],"study_design_scores_gemma":[0.00006403482,0.0001299112,0.9968973,0.00002659258,0.001183814,0.0004182098,0.00003994045,0.0003183591,0.0004051371,0.0001256735,0.000384698,0.000006376063],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905809,0.006794829,0.0008528527,0.0002556968,0.00002490271,0.00001840004,0.0009057663,0.00003694237,0.0005297177],"genre_scores_gemma":[0.9980456,0.000752981,0.000528501,0.00005377139,0.00003303166,0.00001194467,0.0004047143,0.000006940643,0.000162356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003303396,"threshold_uncertainty_score":0.01107693,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05055880930489912,"score_gpt":0.3047272006597833,"score_spread":0.2541683913548841,"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."}}