{"id":"W3092171882","doi":"10.1101/2020.10.01.20200659","title":"New insights on the genetic etiology of Alzheimer’s and related dementia","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Mental Health; National Institute on Aging; Center for Innovative Medicine; Instituto de Salud Carlos III; National Institutes of Health; Associazione Italiana Ricerca Alzheimer; UK Dementia Research Institute; Medical Research Council; Academy of Finland; Grifols; Servier; Ministerio de Economía y Competitividad; University College London Hospitals NHS Foundation Trust; IXICO; Demensfonden; Sahlgrenska Universitetssjukhuset; Novo Nordisk; Vetenskapsrådet; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Stockholms Läns Landsting; Banco Bilbao Vizcaya Argentaria; Canadian Institutes of Health Research; European Commission; Knut och Alice Wallenbergs Stiftelse; Fundación Salud 2000; Université de Lille; Karolinska Institutet; Juho Vainion Säätiö; Ministerstvo Zdravotnictví Ceské Republiky; Fonds Wetenschappelijk Onderzoek; National Health and Medical Research Council; Suomen Kulttuurirahasto; Univerzita Karlova v Praze; Generalitat de Catalunya; Bundesministerium für Bildung und Forschung; AXA Research Fund; Ministero della Salute; H. Lundbeck A/S; Institut National de la Santé et de la Recherche Médicale; Universität Heidelberg; Vlaamse regering; National Institute for Health and Care Research; Cardiff University; National Research Foundation; University of Nottingham; Genentech; Fondation pour la Recherche sur Alzheimer; Socialdepartementet; BioClinica; Newcastle University; Universitat de Barcelona; King's College London; University of Cambridge; Novartis Pharmaceuticals Corporation; Motor Neurone Disease Association; National Institute for Social Care and Health Research; Universiteit Antwerpen; Ministerstvo Školství, Mládeže a Tělovýchovy; Higher Education Funding Council for Wales; Dipartimenti di Eccellenza; University of California, San Diego; Alzheimer's Society; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Sorbonne Université; Northern California Institute for Research and Education; South London and Maudsley NHS Foundation Trust; Ludwig Boltzmann Gesellschaft; European Regional Development Fund; Alzheimer's Research Trust; U.S. Department of Defense; Hersenstichting; BrightFocus Foundation; Eli Lilly and Company; North Bristol NHS Trust; Itä-Suomen Yliopisto; Fundação para a Ciência e a Tecnologia; EU Joint Programme – Neurodegenerative Disease Research; Pfizer; Wellcome Trust; Agence Nationale de la Recherche; Biogen; Eisai; University of Southern California; Foundation for the National Institutes of Health; Ministero dell’Istruzione, dell’Università e della Ricerca; Fundación BBVA; F. Hoffmann-La Roche; Seinäjoen Keskussairaala; Vanderbilt University; Meso Scale Diagnostics; Yrjö Jahnssonin Säätiö; U.S. Department of Veterans Affairs; Consortium canadien en neurodégénérescence associée au vieillissement; Bristol-Myers Squibb; Sigrid Juséliuksen Säätiö; Stichting MS Research; University of Southampton; Economic and Social Research Council; Office of Research and Development; Stichting ALS Nederland; Alzheimer's Association","keywords":"Dementia; Disease; Alzheimer's disease; Frontotemporal dementia; Genome-wide association study; Neuroscience; Bioinformatics; Biology; Medicine; Gene; Genetics; Internal medicine; Single-nucleotide polymorphism; Genotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000219888,0.0002088991,0.0003318338,0.00003623525,0.00005652324,0.000007132853,0.0002738788,0.0004955615,0.00006528365],"category_scores_gemma":[0.0003157602,0.0001527808,0.0001218044,0.00005421706,0.0001143556,4.176866e-7,0.0005135486,0.000291066,0.00001532877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004282109,"about_ca_system_score_gemma":0.0001274301,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004647966,"about_ca_topic_score_gemma":0.0000206439,"domain_scores_codex":[0.9984831,0.0003412818,0.0004270824,0.0004851723,0.00008299421,0.0001803693],"domain_scores_gemma":[0.9989809,0.00006056644,0.0003339856,0.0004821419,0.00005547782,0.00008695478],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002124418,0.0001934307,0.4518479,0.0001598347,0.01105268,0.00002478243,0.001530755,0.0040298,0.4191612,0.007333655,0.09103221,0.01342128],"study_design_scores_gemma":[0.0006164224,0.0006599618,0.9342414,0.00004815821,0.00078728,0.00001398878,0.00005600148,0.0005595141,0.02155103,0.02205158,0.01893576,0.0004788874],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9836807,0.009549396,0.0009270256,0.004012607,0.0003655003,0.0002901248,0.00001288351,0.000009336335,0.001152457],"genre_scores_gemma":[0.9957521,0.001573591,0.001694795,0.0005624343,0.0001599089,0.0000230428,0.00009282698,0.00002231549,0.000118968],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4823935,"threshold_uncertainty_score":0.6230222,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03235989924789832,"score_gpt":0.2684144056416329,"score_spread":0.2360545063937345,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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