{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002554145,0.0004603864,0.0004922506,0.002710955,0.0005020198,0.0008976207,0.0003206172,0.0004196665,0.0015541],"category_scores_gemma":[0.00484807,0.0002195427,0.0009905065,0.002474642,0.0004513554,0.0002965972,0.0008336636,0.0004266202,0.000170359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002488626,"about_ca_system_score_gemma":0.0003795873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01008585,"about_ca_topic_score_gemma":0.01147783,"domain_scores_codex":[0.9978125,0.001055408,0.0002191143,0.0005037517,0.00023838,0.0001707713],"domain_scores_gemma":[0.99726,0.001140462,0.0006079073,0.0005953666,0.0001724222,0.0002238515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003960953,0.00003114323,0.9851308,0.00002270276,0.0008595175,0.0002625817,0.0001177688,0.0006880345,0.00144304,0.000294381,0.0001490005,0.0106048],"study_design_scores_gemma":[0.0000241594,0.0000765953,0.9958978,0.00001426821,0.0003125972,0.0003662164,0.0000761757,0.001596962,0.0002372532,0.001039578,0.0003466546,0.00001167496],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963649,0.0004831266,0.001810601,0.00007089892,0.00001015448,0.00001495557,0.0007113207,0.00001941729,0.0005146927],"genre_scores_gemma":[0.9978357,0.0001401241,0.001218947,0.00001546816,0.00001122333,0.00001172259,0.0006266968,0.000006654905,0.0001335148],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01008585,"threshold_uncertainty_score":0.02005428,"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."}}