{"id":"W3208830048","doi":"10.1101/2021.10.19.21265022","title":"Challenges at the <i>APOE</i> locus: A robust quality control approach for accurate <i>APOE</i> genotyping","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; National Institute on Aging; National Institutes of Health; Associazione Italiana Ricerca Alzheimer; UK Dementia Research Institute; Medical Research Council; Servier; University College London Hospitals NHS Foundation Trust; Sahlgrenska Universitetssjukhuset; Vetenskapsrådet; Novo Nordisk; National Institute of Diabetes and Digestive and Kidney Diseases; IXICO; Knut och Alice Wallenbergs Stiftelse; Karolinska Institutet; Juho Vainion Säätiö; Ministero dell’Istruzione, dell’Università e della Ricerca; Ministerstvo Zdravotnictví Ceské Republiky; Suomen Kulttuurirahasto; King's College London; Academy of Finland; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Universität Heidelberg; Vlaamse regering; National Institute for Health and Care Research; National Research Foundation; Genentech; Fondation pour la Recherche sur Alzheimer; Socialdepartementet; European Commission; University of Cambridge; Ministerio de Economía y Competitividad; Bundesministerium für Bildung und Forschung; National Institute for Social Care and Health Research; Ministerstvo Školství, Mládeže a Tělovýchovy; Higher Education Funding Council for Wales; National Alzheimer's Coordinating Center; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; Dipartimenti di Eccellenza; Fundação para a Ciência e a Tecnologia; Pfizer; EU Joint Programme – Neurodegenerative Disease Research; Center for Innovative Medicine; Sorbonne Université; Universiteit Antwerpen; Northern California Institute for Research and Education; South London and Maudsley NHS Foundation Trust; Agence Nationale de la Recherche; Biogen; BioClinica; Seinäjoen Keskussairaala; Univerzita Karlova v Praze; F. Hoffmann-La Roche; Universidade de Aveiro; University of Pennsylvania; AXA Research Fund; Canadian Institutes of Health Research; Alzheimer's Society; University of Southampton; Eisai; Foundation for the National Institutes of Health; University of Southern California; Fonds Wetenschappelijk Onderzoek; Meso Scale Diagnostics; Yrjö Jahnssonin Säätiö; Cardiff University; Eli Lilly and Company; National Heart, Lung, and Blood Institute; Itä-Suomen Yliopisto; H. Lundbeck A/S; University of Nottingham; Emory University; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Bristol-Myers Squibb; Economic and Social Research Council; Novartis Pharmaceuticals Corporation; Université de Lille; Alzheimer's Association","keywords":"Apolipoprotein E; Genotyping; Genotype; Locus (genetics); Allele; Genetics; Biology; Single-nucleotide polymorphism; Disease; Computational biology; Medicine; Internal medicine; Gene","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":[0.06513473,0.0008928772,0.001483217,0.001519665,0.001109578,0.003970497,0.002203525,0.001413798,0.001329043],"category_scores_gemma":[0.09857285,0.0005590399,0.001690767,0.001858729,0.001724026,0.001184899,0.002085626,0.002180057,0.0008075475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001115936,"about_ca_system_score_gemma":0.003077461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004588714,"about_ca_topic_score_gemma":0.004202501,"domain_scores_codex":[0.9636915,0.02183197,0.002598548,0.004825463,0.006276897,0.0007757273],"domain_scores_gemma":[0.9268486,0.03990601,0.006841817,0.01458253,0.01100854,0.0008124913],"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":[0.002923695,0.0006619265,0.152542,0.00217662,0.004107766,0.0008091275,0.001708003,0.07262769,0.1582826,0.03541088,0.01275921,0.5559905],"study_design_scores_gemma":[0.0007446548,0.001828683,0.1673343,0.0007757915,0.002012314,0.002040853,0.0005858015,0.5908284,0.1289334,0.07219462,0.03222032,0.0005008084],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.0369476,0.0008649001,0.9591883,0.0007399725,0.0001140183,0.0004154962,0.0004359676,0.000608588,0.0006850773],"genre_scores_gemma":[0.3404558,0.0005730995,0.6533516,0.001068441,0.0002606475,0.001162481,0.001735631,0.0004307153,0.0009615783],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.06513473,"threshold_uncertainty_score":0.3444695,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.080379561022939,"score_gpt":0.314417096360102,"score_spread":0.234037535337163,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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