{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002983138,0.0003616769,0.001156364,0.0001747119,0.0000424665,0.000008341581,0.0001922002,0.0001909832,0.00006728723],"category_scores_gemma":[0.001820755,0.0003204015,0.0004933024,0.0001541922,0.00007479233,0.00003379491,0.0003407004,0.0002998174,0.00002739405],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003613735,"about_ca_system_score_gemma":0.000378115,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002392936,"about_ca_topic_score_gemma":0.000002842726,"domain_scores_codex":[0.9976574,0.000123903,0.0005907268,0.000594675,0.0007541095,0.0002792534],"domain_scores_gemma":[0.9975243,0.0002731021,0.0008377168,0.00059529,0.0003681168,0.0004014728],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005630702,0.0005593179,0.9892654,0.002616829,0.003568901,0.0002371158,0.0005962385,0.0001121035,0.001440073,0.00007894859,0.0005926074,0.0003694084],"study_design_scores_gemma":[0.001456302,0.0001593039,0.9797813,0.0004570647,0.002398727,3.832925e-7,0.0001535978,0.0001647611,0.00268093,0.003430893,0.009085879,0.0002308386],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9878914,0.007472406,0.0001634583,0.002250903,0.0004441936,0.0007960398,0.0004752145,0.00006583947,0.0004405207],"genre_scores_gemma":[0.9955431,0.002638336,0.0005902092,0.0003087699,0.0001346704,0.0001236836,0.0002224982,0.00004854942,0.0003901557],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009484067,"threshold_uncertainty_score":0.9999248,"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."}}