{"id":"W3082228669","doi":"10.1101/2020.08.11.20172882","title":"The Parkinson’s Disease DNA Variant Browser","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; Allergan; National Institutes of Health; Institute of Genetics; Biogen; Agence Nationale de la Recherche; Assistance publique-Hôpitaux de Paris; Sanofi; Fondation de France; Bundesministerium für Bildung und Forschung; Landspítali Háskólasjúkrahús; Avid Radiopharmaceuticals; King Faisal Specialist Hospital and Research Centre; University of Reading; Parkinson's UK; National Institute on Aging; National Institute for Health and Care Research; Multiple System Atrophy Coalition; Medical Research Council; Verily Life Sciences; Deutsche Forschungsgemeinschaft; Center for Individualized Medicine, Mayo Clinic; Lewy Body Dementia Association; Sol Goldman Charitable Trust; Pfizer; EU Joint Programme – Neurodegenerative Disease Research; University College London; Wellcome Trust; McGill University; University of Dundee; Itä-Suomen Yliopisto; Demensförbundet; Helsingin ja Uudenmaan Sairaanhoitopiiri; Bristol-Myers Squibb; Helsingin Yliopisto; Eli Lilly and Company; U.S. Department of Defense; University of Kentucky; Canada First Research Excellence Fund; Little Family Foundation; Johns Hopkins University; Parkinson Vereniging; Michael J. Fox Foundation for Parkinson's Research; Consortium canadien en neurodégénérescence associée au vieillissement; American Parkinson Disease Association; Celgene; Mayo Clinic; U.S. Department of Health and Human Services; Foundation for the National Institutes of Health","keywords":"Disease; DNA sequencing; Genotyping; Genome browser; Gene; Parkinsonism; Parkinson's disease; Genetics; Genomics; Computational biology; Biology; Bioinformatics; Medicine; Genome; Genotype; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.001685459,0.0008637403,0.0007025489,0.002566033,0.0004298829,0.00122367,0.0008017699,0.0008723859,0.04867187],"category_scores_gemma":[0.005051658,0.0005573133,0.0005268476,0.002353048,0.0001798784,0.0009336135,0.001910401,0.0008800346,0.01948971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004131302,"about_ca_system_score_gemma":0.001181494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005871675,"about_ca_topic_score_gemma":0.008386086,"domain_scores_codex":[0.9995016,0.000114045,0.00006134351,0.0001287143,0.0001568254,0.00003745293],"domain_scores_gemma":[0.9979916,0.001103761,0.0001882755,0.0002636546,0.0002351711,0.000217467],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001276752,0.0001348919,0.01355253,0.001964086,0.0002564987,0.0006656087,0.0006342285,0.001556936,0.007939543,0.005443392,0.8807799,0.08579571],"study_design_scores_gemma":[0.000554201,0.0001150465,0.0230382,0.0006995733,0.0001679513,0.001525125,0.0003688231,0.007090611,0.007887173,0.01429879,0.9441184,0.0001361836],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"software","genre_scores_codex":[0.01251446,0.001189941,0.03004475,0.001268758,0.0002458554,0.0002898238,0.856882,0.08883969,0.008724767],"genre_scores_gemma":[0.05769918,0.001708802,0.0811822,0.00111196,0.0001685825,0.0007412654,0.8322088,0.01330735,0.01187185],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.04867187,"threshold_uncertainty_score":0.1628236,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02961268048558624,"score_gpt":0.2728051605134866,"score_spread":0.2431924800279003,"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."}}