{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002003103,0.0001145497,0.0003024448,0.0001011899,0.00008974884,0.000004234136,0.00005509207,0.00005869356,0.0002571567],"category_scores_gemma":[0.0002156018,0.00009377768,0.00006604598,0.0001710592,0.00008661042,0.00005009659,0.00009679396,0.0003145816,0.000004272465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001837387,"about_ca_system_score_gemma":0.0001804261,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000138486,"about_ca_topic_score_gemma":0.00000700037,"domain_scores_codex":[0.9984854,0.0003906421,0.0002006801,0.0002617687,0.0004199985,0.0002415233],"domain_scores_gemma":[0.9988827,0.0002134612,0.0002433392,0.0002633139,0.00013546,0.0002617896],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.009063543,0.000880733,0.9792519,0.00005703398,0.005654777,0.001460709,0.0001075415,0.00003050395,0.0001593428,0.00004966805,0.002302808,0.0009814771],"study_design_scores_gemma":[0.005545488,0.002407128,0.9875171,0.000009881483,0.002834275,0.0001081794,0.00002969065,0.0002970134,0.0002365074,0.0001843011,0.0007510278,0.00007945139],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920499,0.003412143,0.000002013565,0.003297249,0.00004125349,0.000401814,0.0004585803,0.00001716735,0.0003198941],"genre_scores_gemma":[0.9988943,0.0002167106,0.00004152675,0.0006112294,0.00003801244,0.00004325322,0.00008650736,0.00002061449,0.00004787762],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008265194,"threshold_uncertainty_score":0.3824143,"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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