{"id":"W2943301612","doi":"10.1101/629402","title":"Predicting late-onset Alzheimer’s disease from genomic data using deep neural networks","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Aging; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; National Institutes of Health; IXICO; Centre hospitalier régional universitaire de Lille; H. Lundbeck A/S; Northern California Institute for Research and Education; Hjartavernd; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Eisai; Servier; Institut National de la Santé et de la Recherche Médicale; Bundesministerium für Bildung und Forschung; Pfizer; Biogen; BioClinica; Wellcome Trust; University of Southern California; National Heart, Lung, and Blood Institute; Novartis Pharmaceuticals Corporation; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; F. Hoffmann-La Roche; Genentech; Erasmus Medisch Centrum; Alzheimer's Drug Discovery Foundation; Alzheimer's Disease Neuroimaging Initiative; Medical Research Council; Meso Scale Diagnostics; Alzheimer's Association; Foundation for the National Institutes of Health","keywords":"Disease; Dementia; Genetic association; Genetic data; Alzheimer's disease; Artificial neural network; Biology; Computational biology; Machine learning; Medicine; Genetics; Computer science; Gene; Single-nucleotide polymorphism; Genotype; Pathology","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":[0.001144764,0.0008842014,0.0005967097,0.0009596765,0.0001916305,0.0007389316,0.000541001,0.000812091,0.0008189799],"category_scores_gemma":[0.002308207,0.0002725628,0.0004701895,0.0006848045,0.0002878826,0.0005573377,0.0005163343,0.001093764,0.0002947047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006580194,"about_ca_system_score_gemma":0.0005121822,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007705886,"about_ca_topic_score_gemma":0.008702802,"domain_scores_codex":[0.9997626,0.00008871776,0.00001281071,0.00006800333,0.00003029174,0.00003771184],"domain_scores_gemma":[0.999118,0.0005751571,0.00008189703,0.00006141559,0.0001048889,0.00005855647],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.000810541,0.0006145207,0.06872964,0.0001394413,0.0003788733,0.0005771936,0.00007823237,0.7496312,0.009274532,0.003141529,0.005882306,0.160742],"study_design_scores_gemma":[0.000008402903,0.00001675467,0.002540215,0.00000838123,0.00001220688,0.00002319162,0.000006729153,0.9924245,0.0006199834,0.004126722,0.0002078722,0.000005105107],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6150779,0.004471171,0.3667069,0.004140683,0.000265806,0.00008339432,0.00533366,0.001526346,0.002394301],"genre_scores_gemma":[0.962868,0.0007841793,0.03131194,0.0003073529,0.00009146921,0.00004010448,0.003109179,0.00002019636,0.001467661],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007705886,"threshold_uncertainty_score":0.01532209,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03225503320372834,"score_gpt":0.2573963256950383,"score_spread":0.2251412924913099,"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."}}