{"id":"W3019747475","doi":"10.1038/s41588-020-0610-9","title":"Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease","year":2020,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":387,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto General Hospital; Hospital for Sick Children; Centre for Addiction and Mental Health; University of Toronto","funders":"National Institute of Mental Health; Perelman School of Medicine, University of Pennsylvania; UK Dementia Research Institute; National Center of Neurology and Psychiatry; Broad Institute; Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu; Universität Duisburg-Essen; Rheinische Friedrich-Wilhelms-Universität Bonn; Medical Research Council; Tartu Ülikool; RWTH Aachen University; Centre National de la Recherche Scientifique; Universitat de Barcelona; Göteborgs Universitet; Cancerfonden; Université Paris Descartes; Universitetet i Oslo; National Institute of General Medical Sciences; National and Kapodistrian University of Athens; Karolinska Institutet; Lundbeckfonden; Hjärnfonden; Università degli Studi di Padova; Université de Montpellier; University of Pennsylvania; Technische Universität Dresden; Medizinischen Hochschule Hannover; University of Toronto; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Sahlgrenska Akademin; H. Lundbeck A/S; University of Bristol; Bundesministerium für Bildung und Forschung; Pfizer; Institut National de la Santé et de la Recherche Médicale; Universitat Pompeu Fabra; Agence Nationale de la Recherche; Kommunfullmäktige, Stockholms Stad; Alzheimer's Society; Wellcome Trust; Universität Basel; Massachusetts Institute of Technology; European Commission; University of Otago; QIMR Berghofer Medical Research Institute; Aarhus Universitet; Harokopio University; National Science Foundation; University of Minnesota; Vetenskapsrådet; Virginia Commonwealth University; Harvard University; Stiftelsen för Strategisk Forskning; Michael J. Fox Foundation for Parkinson's Research","keywords":"Biology; Parkinson's disease; Identification (biology); Disease; Genetics; Complex disease; Etiology; Computational biology; Cell type; Neuroscience; Cell; Bioinformatics; Gene; Internal medicine","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":[],"consensus_categories":[],"category_scores_codex":[0.0001765308,0.0001522634,0.0002312741,0.00003540003,0.00008120954,0.000006790639,0.0003736763,0.000397276,0.00001385122],"category_scores_gemma":[0.0004114703,0.000123833,0.0001188221,0.0001682463,0.0001691484,0.000001617188,0.0001132653,0.0002080664,0.000003870377],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009104418,"about_ca_system_score_gemma":0.0001139046,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007555925,"about_ca_topic_score_gemma":0.00003894258,"domain_scores_codex":[0.9986112,0.000230778,0.0004943823,0.0003408211,0.0001416324,0.0001812078],"domain_scores_gemma":[0.9989499,0.00008790989,0.0003516127,0.0003194989,0.0001905367,0.0001004769],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00008032649,0.00007375483,0.04770682,0.0001022343,0.00009740351,9.840008e-7,0.00109462,0.004110233,0.9384922,0.0001322497,0.004290897,0.003818254],"study_design_scores_gemma":[0.0003823548,0.0002778702,0.9165628,0.000006008708,0.00009016048,0.000001070902,0.0002156121,0.003115543,0.04139417,0.001197899,0.03657011,0.0001864331],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9820086,0.007831806,0.006934542,0.002705564,0.0001246218,0.0002324112,0.00002694647,0.000006670316,0.0001288308],"genre_scores_gemma":[0.9935043,0.001002652,0.00337652,0.001763611,0.0001709961,0.00001267127,0.00009752022,0.00001927534,0.0000524574],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8970981,"threshold_uncertainty_score":0.5049763,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02463722555019835,"score_gpt":0.2832840162601184,"score_spread":0.25864679070992,"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."}}