{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.09573242,0.001235561,0.001878695,0.002005035,0.00139102,0.003919849,0.002591249,0.002140676,0.001551744],"category_scores_gemma":[0.1473471,0.0006526567,0.002069183,0.002571012,0.001989152,0.001565891,0.002826134,0.002629217,0.0008653009],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001281266,"about_ca_system_score_gemma":0.003521892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004716439,"about_ca_topic_score_gemma":0.004289355,"domain_scores_codex":[0.9493692,0.03136526,0.003712422,0.006429342,0.008218895,0.0009048979],"domain_scores_gemma":[0.908883,0.05151293,0.006740053,0.0177836,0.01414081,0.0009395587],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002717664,0.0005819924,0.1152853,0.002101758,0.003796533,0.0008477821,0.001939377,0.06725536,0.07863184,0.04044076,0.01305284,0.6733488],"study_design_scores_gemma":[0.001167155,0.002035946,0.1598483,0.0009114214,0.002661838,0.002920454,0.0006661269,0.5793561,0.08626088,0.1140744,0.04950143,0.0005959693],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.01499296,0.0009039754,0.9816891,0.0006325693,0.00009898952,0.0004308089,0.0003379462,0.0004743682,0.0004391756],"genre_scores_gemma":[0.20303,0.0006446193,0.7909247,0.000794022,0.0002792779,0.001456378,0.001646494,0.0003670826,0.0008573856],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.09573242,"threshold_uncertainty_score":0.5062875,"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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