{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003053641,0.0002039603,0.0002706176,0.0001240762,0.00009222182,0.00003294579,0.0001770651,0.00006059689,0.0001114765],"category_scores_gemma":[0.00008553397,0.0001504421,0.0001566622,0.0004749856,0.00005436264,0.000293351,0.00002019814,0.0002013129,0.00004234504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003746626,"about_ca_system_score_gemma":0.0004396839,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008745739,"about_ca_topic_score_gemma":0.00008815445,"domain_scores_codex":[0.9976357,0.0002314172,0.0004605438,0.0003884147,0.0009983927,0.0002855441],"domain_scores_gemma":[0.998961,0.0002358068,0.0001360263,0.0003154152,0.0000624953,0.0002892054],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002619199,0.003477371,0.982467,0.0000612367,0.006982192,0.00004592219,0.0005120226,0.00004192578,0.00002851609,0.00002166257,0.003591779,0.0001511923],"study_design_scores_gemma":[0.00586251,0.0002713042,0.9909248,0.00002666014,0.00135215,7.190669e-7,0.000671951,0.0003195814,0.000002797332,0.0002214936,0.0002139817,0.0001320117],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9514776,0.0075496,0.00005842801,0.03385846,0.0001047691,0.002032117,0.004643121,0.0000274974,0.0002483924],"genre_scores_gemma":[0.9926414,0.00004170595,0.0002126025,0.001086742,0.00008252996,0.00007108831,0.005839115,0.0000224044,0.000002423991],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04116377,"threshold_uncertainty_score":0.613485,"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."}}