{"id":"W2970474312","doi":"10.1016/j.jalz.2019.06.4950","title":"Genome‐wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project","year":2019,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":179,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Johnson and Johnson Pharmaceutical Research and Development; National Institute of Biomedical Imaging and Bioengineering; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; National Institute on Aging; Agencia de Innovación y Desarrollo de Andalucía; Instituto de Salud Carlos III; Canadian Institutes of Health Research; Alzheimer's Drug Discovery Foundation; National Institutes of Health; Eisai; Centre hospitalier régional universitaire de Lille; H. Lundbeck A/S; Illinois Department of Public Health; Hjartavernd; Labex; Wellcome; Innovative Medicines Initiative; Grifols; Institut Pasteur; Center for International Business Education and Research, University of Illinois at Urbana-Champaign; Bundesministerium für Bildung und Forschung; Institut National de la Santé et de la Recherche Médicale; European Commission; Genentech; Erasmus Medisch Centrum; Merck; National Alzheimer's Coordinating Center; Translational Genomics Research Institute; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Alzheimer's Association; European Federation of Pharmaceutical Industries and Associations; F. Hoffmann-La Roche; Rush University; Medical Research Council; Servier; BioClinica; CurePSP; Biomedical Research Foundation; Agence Nationale de la Recherche; Biogen; Pfizer; Roche; Alzheimer's Disease Neuroimaging Initiative; Mayo Foundation for Medical Education and Research; IXICO; Takeda Pharmaceutical Company; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; Wellcome Trust; Mayo Clinic; Fujirebio US; Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas; Novartis Pharmaceuticals Corporation; European Regional Development Fund; GE Healthcare; Meso Scale Diagnostics","keywords":"Endophenotype; Disease; Dementia; Genetic association; Meta-analysis; Genome-wide association study; Genetic heterogeneity; Biology; Genetics; Genome; Computational biology; Bioinformatics; Medicine; Gene; Neuroscience; Genotype; Cognition; Pathology; Single-nucleotide polymorphism; Phenotype","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":[],"consensus_categories":[],"category_scores_codex":[0.001736611,0.0002345151,0.0004903998,0.00006204611,0.0001560854,0.00003173387,0.0001923213,0.000229138,0.00002328981],"category_scores_gemma":[0.0004664747,0.0001793778,0.000166055,0.0003209874,0.00009844475,0.0000120861,0.0002138102,0.0001554482,0.000002160932],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008101807,"about_ca_system_score_gemma":0.0001027812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001379875,"about_ca_topic_score_gemma":0.0007470835,"domain_scores_codex":[0.9978245,0.0003961862,0.0006102807,0.0005622368,0.0002197809,0.0003869828],"domain_scores_gemma":[0.9981333,0.0003986493,0.0007309982,0.000384794,0.000243849,0.0001083888],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007664101,0.0001017792,0.9226894,0.000002385159,0.074899,4.435832e-7,0.00003023158,0.0007722666,0.0004924508,0.00003785101,0.0005039762,0.0003935397],"study_design_scores_gemma":[0.0006863502,0.000186665,0.9374851,0.000005075398,0.05747965,3.599251e-7,0.00003293174,0.002967656,0.00009222888,0.00002954474,0.0008262963,0.0002081562],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9383904,0.05932373,0.0008489123,0.0004835612,0.00009876198,0.0006378813,0.0001245582,0.00001129245,0.00008094544],"genre_scores_gemma":[0.997656,0.0006706259,0.0004216605,0.0004475256,0.00008162219,0.00003889634,0.000643564,0.00002244909,0.00001768078],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05926562,"threshold_uncertainty_score":0.7314813,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02951423079204543,"score_gpt":0.2913039031726841,"score_spread":0.2617896723806387,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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