{"id":"W3184840414","doi":"10.17863/cam.70957","title":"Common variants in Alzheimer's disease and risk stratification by polygenic risk scores","year":2020,"lang":"en","type":"article","venue":"idUS (Universidad de Sevilla)","topic":"Health, Environment, Cognitive Aging","field":"Environmental Science","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Aging; NIHR Newcastle Biomedical Research Centre; Economic and Social Research Council; National Institutes of Health; Amsterdam Neuroscience; Associazione Italiana Ricerca Alzheimer; Instituto de Salud Carlos III; UK Dementia Research Institute; Hjartavernd; Stichting Dioraphte; University College London Hospitals NHS Foundation Trust; Center for Innovative Medicine; Sorbonne Université; Universiteit Antwerpen; Medical Research Council; Corporación Tecnológica de Andalucía; Université de Bordeaux; Demensfonden; Sahlgrenska Universitetssjukhuset; Vetenskapsrådet; Stockholms Läns Landsting; Banco Bilbao Vizcaya Argentaria; Novo Nordisk; National Institute of Diabetes and Digestive and Kidney Diseases; Knut och Alice Wallenbergs Stiftelse; Fundación BBVA; Ministero dell’Istruzione, dell’Università e della Ricerca; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Erasmus Medisch Centrum; Ministère de l'Enseignement supérieur, de la Recherche et de l'Innovation; Generalitat de Catalunya; Fundación Salud 2000; Karolinska Institutet; National Health and Medical Research Council; Suomen Kulttuurirahasto; University of Cambridge; ZonMw; Alzheimer Nederland; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Vlaamse regering; Alzheimer Society; National Institute for Health and Care Research; National Research Foundation; Junta de Andalucía; Universität Heidelberg; University of Bristol; University of Nottingham; Arts and Humanities Research Council; Ministerstvo Zdravotnictví Ceské Republiky; Fondation pour la Recherche sur Alzheimer; Socialdepartementet; European Commission; Newcastle University; Grifols; AXA Research Fund; Wellcome Trust; Sigrid Juséliuksen Säätiö; Alzheimer's Society; University of Southampton; Motor Neurone Disease Association; NIHR Oxford Biomedical Research Centre; National Institute for Social Care and Health Research; Ministerstvo Školství, Mládeže a Tělovýchovy; Higher Education Funding Council for Wales; Dipartimenti di Eccellenza; Université de Lille; Centre hospitalier régional universitaire de Lille; Eisai; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Stichting ALS Nederland; Alzheimer's Association; European Federation of Pharmaceutical Industries and Associations; Ludwig Boltzmann Gesellschaft; Cardiff University; National Heart, Lung, and Blood Institute; Itä-Suomen Yliopisto; Fonds Wetenschappelijk Onderzoek; Yrjö Jahnssonin Säätiö; Fundação para a Ciência e a Tecnologia; EU Joint Programme – Neurodegenerative Disease Research; Universidade de Aveiro; Juho Vainion Säätiö; European Regional Development Fund; Universitat de Barcelona; King's College London; Seinäjoen Keskussairaala; Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas; Univerzita Karlova v Praze","keywords":"Polygenic risk score; Disease; Risk stratification; Medicine; Genetics; Biology; Demography; Internal medicine; Genotype; Gene; Single-nucleotide polymorphism","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":[0.0003038461,0.0001698382,0.0001619347,0.00004849296,0.0002433812,0.00003707812,0.0002047101,0.00007679346,0.0005594724],"category_scores_gemma":[0.00008377541,0.0001998209,0.00003672649,0.0003203941,0.0001980201,0.0003844045,0.0001599828,0.0003036661,0.0002671842],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001924885,"about_ca_system_score_gemma":0.00002855029,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002979098,"about_ca_topic_score_gemma":0.0006767817,"domain_scores_codex":[0.9982768,0.0003485063,0.0001716491,0.0005904687,0.0002526922,0.0003598669],"domain_scores_gemma":[0.9989637,0.0001032169,0.0001603576,0.0002605061,0.000003160121,0.0005090674],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007506189,0.00005518209,0.9528071,0.000006933287,0.00003722548,0.00004918461,0.001286074,0.0006878543,0.001771095,0.00004536688,0.0009092677,0.04226962],"study_design_scores_gemma":[0.0006083357,0.00006252265,0.9834802,0.00001379635,0.0001290115,0.000001952532,0.0006633789,0.01299799,0.000168259,0.0003670292,0.001273074,0.0002344583],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937221,0.0006303142,0.0007055288,0.001842287,0.00001965736,0.0003962298,0.0001501417,0.00004349748,0.002490275],"genre_scores_gemma":[0.9974723,0.001605807,0.0003022602,0.0005255105,0.00002035325,0.000005601563,0.00002529094,0.00002025621,0.00002257706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04203517,"threshold_uncertainty_score":0.814846,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01315426602263551,"score_gpt":0.2377632030068395,"score_spread":0.224608936984204,"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."}}