{"id":"W4281716488","doi":"10.1001/jamaneurol.2022.1166","title":"Association of Rare <i>APOE</i> Missense Variants V236E and R251G With Risk of Alzheimer Disease","year":2022,"lang":"en","type":"article","venue":"JAMA Neurology","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":93,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Brain Institute; University of Toronto; University Health Network","funders":"Instituto de Salud Carlos III; Economic and Social Research Council; National Institutes of Health; Université de Paris; Amsterdam Neuroscience; Région Normandie; Berlin Institute of Health; Normandie Université; National Institute on Aging; Università degli Studi di Camerino; Universität Duisburg-Essen; Rheinische Friedrich-Wilhelms-Universität Bonn; Universität zu Köln; Freie Universität Berlin; Medical Research Council; Centre Hospitalier Universitaire de Bordeaux; Università degli Studi di Brescia; Uppsala Universitet; Deutsches Zentrum für Neurodegenerative Erkrankungen; Universität Zürich; Centre Hospitalier Universitaire Vaudois; Universitat de Barcelona; Università Cattolica del Sacro Cuore; Technische Universität München; Universita degli Studi di Bari Aldo Moro; Universidade de Lisboa; Instituto de Investigación Sanitaria del Principado de Asturias; Universidad Autónoma de Madrid; Universitätsspital Zürich; Medizinische Universität Wien; National and Kapodistrian University of Athens; Karolinska Institutet; University of Toronto; Universidad de Cantabria; Universität Wien; Universität Heidelberg; Università degli Studi di Milano-Bicocca; Assistance publique-Hôpitaux de Paris; Agence Nationale de la Recherche; Università degli Studi di Perugia; Universiteit Maastricht; University of Oxford; Vrije Universiteit Amsterdam; Université Paris-Saclay; University of Bristol; Université de Bordeaux; Lundbeckfonden; Itä-Suomen Yliopisto; Cardiff University; Universitat Autònoma de Barcelona; Eidgenössische Technische Hochschule Zürich; Université de Lille; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Universitetet i Oslo; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Medical University Sofia; Instituto de Investigación Marqués de Valdecilla; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Università degli Studi di Milano; EU Joint Programme – Neurodegenerative Disease Research; Università degli Studi di Firenze; Humboldt-Universität zu Berlin; Institut National de la Santé et de la Recherche Médicale; Neuroscience Center Zurich, University of Zurich; Aristotle University of Thessaloniki; Univerzita Karlova v Praze; Università degli Studi di Cagliari; Centro de Biología Molecular Severo Ochoa; Universidad de Málaga; Amsterdam University Medical Centers; Università degli Studi di Parma; University of Texas Health Science Center at San Antonio; Universidad de Sevilla; Universidade de Aveiro; Stockholms Universitet; Alzheimer's Association","keywords":"Missense mutation; Disease; Apolipoprotein E; Alzheimer's disease; Association (psychology); Medicine; Genetics; Internal medicine; Biology; Psychology; Mutation; Gene","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":[0.001099291,0.0004486313,0.0004657859,0.0007677773,0.0005717684,0.0007117094,0.0005043071,0.000685638,0.001620621],"category_scores_gemma":[0.003457113,0.0003040238,0.0005515579,0.0005377483,0.0004705155,0.0001993699,0.0003580342,0.0004006036,0.0001839645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002844423,"about_ca_system_score_gemma":0.0002693191,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00647225,"about_ca_topic_score_gemma":0.006387192,"domain_scores_codex":[0.9990915,0.0002130889,0.0001071061,0.0003960235,0.0001134285,0.0000789151],"domain_scores_gemma":[0.9983988,0.000471102,0.0006309243,0.000195487,0.0001489927,0.0001546707],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00127204,0.00005895049,0.9898635,0.00002148448,0.0003759289,0.0007238601,0.0001166752,0.0001876404,0.004304965,0.0000574904,0.0001866968,0.002830765],"study_design_scores_gemma":[0.00004122172,0.0002054044,0.9968883,0.000008898455,0.0001682349,0.001346131,0.00005163493,0.0004015283,0.0005927117,0.0000929786,0.0001953708,0.000007587371],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991639,0.000222535,0.0001824082,0.0000220184,0.000004453575,0.000007392126,0.0001919182,0.000009221653,0.0001962106],"genre_scores_gemma":[0.9994118,0.00004004501,0.0001966023,0.00001592218,0.000006790673,0.000005223609,0.0001865015,0.000003507085,0.0001335571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00647225,"threshold_uncertainty_score":0.01286918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01294713704455851,"score_gpt":0.260660569521711,"score_spread":0.2477134324771525,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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