{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002287883,0.0007922748,0.000879434,0.001774885,0.0002532435,0.001099332,0.000348202,0.0005370882,0.003345287],"category_scores_gemma":[0.002778398,0.0002249545,0.0009894741,0.001647393,0.0005625509,0.0006661523,0.0006997908,0.0006794964,0.0003287322],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002837716,"about_ca_system_score_gemma":0.0005006242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001043261,"about_ca_topic_score_gemma":0.0009707151,"domain_scores_codex":[0.9993902,0.0002661284,0.00004345359,0.0001447836,0.0001072556,0.00004816676],"domain_scores_gemma":[0.9985331,0.0008054153,0.0002327083,0.0002100847,0.0001031724,0.000115445],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002726995,0.0003594302,0.6566587,0.002045547,0.009542738,0.004711115,0.0007290503,0.006736741,0.03817407,0.01910678,0.01145081,0.2477581],"study_design_scores_gemma":[0.0003240926,0.0004652819,0.8510116,0.000658553,0.004399266,0.004180538,0.0006481613,0.00708733,0.005466735,0.09320007,0.03246339,0.00009490614],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8017239,0.1311442,0.04322451,0.01167338,0.0007595253,0.0000428368,0.004724679,0.0004142213,0.006292706],"genre_scores_gemma":[0.9589045,0.02479209,0.01044392,0.001373099,0.0009742882,0.00002647323,0.001836859,0.0000751928,0.001573587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003345287,"threshold_uncertainty_score":0.01209962,"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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