{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01032158,0.00137543,0.002027575,0.003919527,0.0008397823,0.002437514,0.001317019,0.0008213718,0.003654364],"category_scores_gemma":[0.01658112,0.0004372293,0.006803126,0.006467968,0.0006170089,0.0006160502,0.002001004,0.0008739588,0.0002824808],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006583638,"about_ca_system_score_gemma":0.001694572,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008799115,"about_ca_topic_score_gemma":0.009510485,"domain_scores_codex":[0.9920758,0.003918137,0.0007817514,0.001924012,0.0008805709,0.0004197559],"domain_scores_gemma":[0.9825467,0.00977171,0.002744683,0.003188142,0.001036087,0.0007126033],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00398994,0.00007997928,0.8662021,0.001751501,0.08418495,0.0008552421,0.0002376259,0.002376458,0.003207375,0.001365331,0.002319444,0.03343026],"study_design_scores_gemma":[0.0004634849,0.0003557724,0.8990492,0.0004565071,0.08389756,0.001425767,0.0001904547,0.003886166,0.001918591,0.003732681,0.004549672,0.00007416883],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9241463,0.03710248,0.01297379,0.002854445,0.0001451816,0.0001462875,0.01952489,0.000291601,0.002815146],"genre_scores_gemma":[0.987542,0.003135666,0.004719459,0.0002389305,0.0001005029,0.00008962818,0.003751165,0.00006316917,0.0003595793],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01032158,"threshold_uncertainty_score":0.05458641,"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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