{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005032188,0.0005624922,0.0005304049,0.002447147,0.0003916843,0.001004223,0.0004923578,0.000796509,0.00215138],"category_scores_gemma":[0.002589745,0.0002883237,0.000378256,0.001518201,0.0008588797,0.0005162213,0.0006804681,0.0007638977,0.0002866739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003791349,"about_ca_system_score_gemma":0.0002558798,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002594094,"about_ca_topic_score_gemma":0.001658108,"domain_scores_codex":[0.9993845,0.0001437665,0.00005262414,0.0001933024,0.0001682898,0.00005742458],"domain_scores_gemma":[0.9983475,0.0006452205,0.0006055782,0.0001486393,0.0001596858,0.00009334917],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001144788,0.00008395997,0.7658785,0.0001114283,0.0005074422,0.002187103,0.0004587984,0.0008588616,0.1978113,0.004191739,0.0008573885,0.0259087],"study_design_scores_gemma":[0.00003530648,0.0001296533,0.9535297,0.00003410273,0.000233741,0.004797052,0.0003595056,0.002086289,0.0290038,0.007231497,0.002523356,0.00003594074],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886321,0.001710966,0.005762791,0.0005087382,0.00003737608,0.00001702841,0.001552977,0.00004354233,0.001734417],"genre_scores_gemma":[0.9964918,0.0009680673,0.001608937,0.00008471855,0.00003808839,0.00001244893,0.0003936044,0.00001674412,0.0003854535],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002594094,"threshold_uncertainty_score":0.007197022,"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."}}