{"id":"W4220762197","doi":"10.1186/s13195-022-00962-4","title":"Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping","year":2022,"lang":"en","type":"article","venue":"Alzheimer s Research & Therapy","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Research Resources; National Institute of Biomedical Imaging and Bioengineering; National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institute on Aging; Center for Innovative Medicine; Fundação para a Ciência e a Tecnologia; National Health and Medical Research Council; Economic and Social Research Council; Medical Research Council; Genentech; National Institutes of Health; Fondation pour la Recherche sur Alzheimer; Amsterdam Neuroscience; Seinäjoen Keskussairaala; Sorbonne Université; Associazione Italiana Ricerca Alzheimer; UK Dementia Research Institute; Ludwig Boltzmann Gesellschaft; Demensfonden; IXICO; Stichting ALS Nederland; Nederlandse Federatie van Universitair Medische Centra; Alzheimer Nederland; Università degli Studi di Camerino; Instituto de Investigación Marqués de Valdecilla; Stichting Dioraphte; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Mutuelle Générale de l'Education Nationale; Universität zu Köln; Agence Française de Sécurité Sanitaire des Produits de Santé; Fundación Salud 2000; Aristotle University of Thessaloniki; Sahlgrenska Universitetssjukhuset; Deutsches Zentrum für Neurodegenerative Erkrankungen; South London and Maudsley NHS Foundation Trust; Rigshospitalet; Novo Nordisk; Vetenskapsrådet; Banco Bilbao Vizcaya Argentaria; Canadian Institutes of Health Research; European Commission; Knut och Alice Wallenbergs Stiftelse; Amsterdam University Medical Centers; Université de Lille; Karolinska Institutet; Juho Vainion Säätiö; Health~Holland; Ministerstvo Zdravotnictví Ceské Republiky; Fonds Wetenschappelijk Onderzoek; Suomen Kulttuurirahasto; University College London Hospitals NHS Foundation Trust; Ministerio de Economía y Competitividad; Erasmus Medisch Centrum; Univerzita Karlova v Praze; Generalitat de Catalunya; Bundesministerium für Bildung und Forschung; Universitetet i Oslo; University of Nottingham; Lundbeckfonden; AXA Research Fund; Vrije Universiteit Amsterdam; Stockholms Läns Landsting; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Ministero della Salute; H. Lundbeck A/S; European Federation of Pharmaceutical Industries and Associations; Institut National de la Santé et de la Recherche Médicale; National Institute on Minority Health and Health Disparities; Universität Heidelberg; North Bristol NHS Trust; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; King's College London; Gentofte Hospital; Deutsche Forschungsgemeinschaft; National Research Foundation; Cardiff University; University of Bristol; Socialdepartementet; BioClinica; Newcastle University; University of Oxford; Universitat de Barcelona; Grifols; Servier; Academy of Finland; Higher Education Funding Council for Wales; National Institute for Health and Care Research; Dipartimenti di Eccellenza; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Ministero dell’Istruzione, dell’Università e della Ricerca; Fundación BBVA; Alzheimer's Association; Meso Scale Diagnostics; Yrjö Jahnssonin Säätiö; Northern California Institute for Research and Education; Translational Genomics Research Institute; Sigrid Juséliuksen Säätiö; Stichting MS Research; University of Southampton; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Alzheimer's Society; Universiteit Antwerpen; Ministerstvo Školství, Mládeže a Tělovýchovy; National Institute for Social Care and Health Research; Motor Neurone Disease Association; Novartis Pharmaceuticals Corporation; ZonMw; University of Cambridge; University of Pittsburgh; University of Miami; EU Joint Programme – Neurodegenerative Disease Research; University of Washington; Pfizer; Wellcome Trust; Agence Nationale de la Recherche; Uniformed Services University of the Health Sciences; Biogen; University of Pennsylvania; Fondation de France; Eisai; Sanofi; Vlaamse regering; Broad Institute; Universidade de Aveiro; University of Southern California; Foundation for the National Institutes of Health; Uppsala Universitet; Rush University; F. Hoffmann-La Roche; Vanderbilt University; Instituto de Salud Carlos III; Universidad de Cantabria; National Cancer Institute; European Regional Development Fund; Alzheimer's Research Trust; Hersenstichting; U.S. Department of Defense; Eli Lilly and Company; Itä-Suomen Yliopisto; Illinois Department of Public Health; GlaxoSmithKline; Bristol-Myers Squibb; Alzheimer's Disease Neuroimaging Initiative; Fondation pour la Recherche Médicale","keywords":"Genotyping; Apolipoprotein E; Locus (genetics); Medicine; Genetics; Computational biology; Data science; Biology; Computer science; Genotype; Internal medicine; Gene; Disease","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":["metaepi_narrow","sts"],"consensus_categories":[],"category_scores_codex":[0.00574187,0.0003927019,0.0006287315,0.0002909236,0.002509168,0.0001099934,0.0007822372,0.0001127458,0.0008602532],"category_scores_gemma":[0.0002228891,0.0002611343,0.0004530615,0.0006356131,0.000578825,0.0001673678,0.0004645885,0.001054181,0.000105],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003596767,"about_ca_system_score_gemma":0.0007417077,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003483598,"about_ca_topic_score_gemma":0.00003445655,"domain_scores_codex":[0.9920276,0.002329804,0.000498494,0.001034289,0.002440085,0.001669699],"domain_scores_gemma":[0.9953451,0.001772443,0.0001405966,0.001458874,0.0006462641,0.0006367422],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.1011677,0.01457957,0.005446305,0.0005020309,0.2230237,0.0004712716,0.00974202,0.002066554,0.004987134,0.008057555,0.07391282,0.5560434],"study_design_scores_gemma":[0.1595869,0.02577303,0.05098979,0.0002272707,0.006221267,0.000704354,0.03616406,0.02878721,0.01466569,0.008762679,0.6636334,0.004484364],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.04480139,0.8991624,0.001025329,0.02808269,0.0002150441,0.01581298,0.0006130493,0.0002617369,0.01002538],"genre_scores_gemma":[0.9791467,0.01044273,0.0003470821,0.0008574165,0.0004076161,0.007796261,0.0003648535,0.0001310347,0.0005063324],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.9343453,"threshold_uncertainty_score":0.9999841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.3684760738879566,"score_gpt":0.4489423383417875,"score_spread":0.08046626445383087,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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