{"id":"W4387358570","doi":"10.1101/2023.10.04.23296569","title":"Novel Alzheimer’s disease genes and epistasis identified using machine learning GWAS platform","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; National Institutes of Health; Genentech; IXICO; H. Lundbeck A/S; Servier; Eisai; Commonwealth Scientific and Industrial Research Organisation; Northern California Institute for Research and Education; Avid Radiopharmaceuticals; F. Hoffmann-La Roche; University of Southern California; Biogen; Eli Lilly and Company; Bristol-Myers Squibb; BioClinica; U.S. Department of Defense; Meso Scale Diagnostics; Alzheimer's Disease Neuroimaging Initiative; Novartis Pharmaceuticals Corporation; Pfizer; National Institute on Aging; Alzheimer's Association","keywords":"Genome-wide association study; Epistasis; Missing heritability problem; Apolipoprotein E; SNP; Heritability; Genetic association; Biology; Genetics; Logistic regression; Genetic architecture; Single-nucleotide polymorphism; Disease; Computational biology; Phenotype; Gene; Genotype; Medicine; Internal medicine","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":[0.002211025,0.0004274815,0.0006598479,0.001380025,0.0004230523,0.00105543,0.0005014734,0.0004785634,0.004950106],"category_scores_gemma":[0.00509923,0.0002358233,0.0009044519,0.001654198,0.000253465,0.0002952233,0.0008832988,0.0005746021,0.0007010103],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002509955,"about_ca_system_score_gemma":0.0004690954,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002284011,"about_ca_topic_score_gemma":0.003251958,"domain_scores_codex":[0.998764,0.0004721276,0.00007778424,0.0003895066,0.0002131322,0.00008343146],"domain_scores_gemma":[0.9977156,0.001367716,0.0003199233,0.0003574514,0.0001111739,0.000128105],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001643816,0.0002917621,0.762566,0.0005113954,0.003127013,0.00197148,0.000308839,0.02336962,0.06090643,0.005947467,0.01622528,0.1231309],"study_design_scores_gemma":[0.0005910206,0.0005008763,0.70324,0.0001268528,0.001543976,0.002830074,0.0001945676,0.223794,0.01721736,0.02992489,0.01989173,0.0001446589],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9102415,0.001298963,0.06762752,0.001277574,0.0001269428,0.00007471455,0.01465073,0.002320488,0.002381585],"genre_scores_gemma":[0.9485503,0.0002380433,0.0392057,0.0003747272,0.00006376699,0.00006396811,0.01020439,0.0002021535,0.001096805],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004950106,"threshold_uncertainty_score":0.01655978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09555739126244986,"score_gpt":0.3245107218944429,"score_spread":0.228953330631993,"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."}}