{"id":"W3109551165","doi":"10.1038/s41398-020-01074-z","title":"Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset","year":2020,"lang":"en","type":"article","venue":"Translational Psychiatry","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"FAS Division of Science, Harvard University; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; National Institutes of Health; IXICO; H. Lundbeck A/S; Genentech; Vlaamse regering; Servier; Innovative Medicines Initiative; Vetenskapsrådet; Eisai; ZonMw; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Deutsche Forschungsgemeinschaft; National Research Foundation; European Federation of Pharmaceutical Industries and Associations; National Institute on Aging; National Institute for Health and Care Research; Northern California Institute for Research and Education; Pfizer; Biogen; BioClinica; Harvard University; F. Hoffmann-La Roche; European Commission; Steno Diabetes Center Copenhagen; University of Southern California; Novartis Pharmaceuticals Corporation; U.S. Department of Defense; Västra Götalandsregionen; Eli Lilly and Company; Bristol-Myers Squibb; Universität zu Lübeck; Alzheimer's Disease Neuroimaging Initiative; Medical Research Council; Meso Scale Diagnostics; Universiteit Antwerpen; Alzheimer's Association; Foundation for the National Institutes of Health","keywords":"Genome-wide association study; Single-nucleotide polymorphism; Biomarker; Genetic association; Genetic architecture; Apolipoprotein E; Alzheimer's disease; Dementia; Biology; Frontotemporal dementia; Biomarker discovery; Disease; Genetics; SNP; Computational biology; Bioinformatics; Medicine; Phenotype; Genotype; Internal medicine; Proteomics; 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":[0.002827254,0.0006482876,0.001491615,0.0009941672,0.0007355809,0.0007858299,0.001161338,0.001010476,0.002217062],"category_scores_gemma":[0.004935132,0.0002484967,0.001001785,0.001910999,0.0002470314,0.0002374016,0.00103873,0.0006500011,0.0004533347],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004584213,"about_ca_system_score_gemma":0.0007477853,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01111725,"about_ca_topic_score_gemma":0.01526445,"domain_scores_codex":[0.9987574,0.0003169089,0.0001411914,0.0004894387,0.0001184707,0.0001765779],"domain_scores_gemma":[0.9984705,0.0004569641,0.0002825568,0.0004354319,0.0001979231,0.0001566004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007394511,0.0003470459,0.9267365,0.0004746141,0.004131417,0.001882798,0.0002732968,0.002575376,0.006978106,0.0006869265,0.0338919,0.01462739],"study_design_scores_gemma":[0.001035745,0.0002625492,0.9814765,0.00005561059,0.001310419,0.001153656,0.0001432149,0.003972279,0.0008585157,0.0005313993,0.009159863,0.00004020104],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8589,0.0006858611,0.001145176,0.0003497158,0.00002061599,0.00006360022,0.1380655,0.00009162432,0.0006779224],"genre_scores_gemma":[0.6967784,0.0002462116,0.003611937,0.0002918873,0.00003313027,0.000322763,0.2980637,0.00003616524,0.0006158081],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01111725,"threshold_uncertainty_score":0.0221051,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04912962746834563,"score_gpt":0.3363868983640525,"score_spread":0.2872572708957069,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}