{"id":"W4412465011","doi":"10.1016/j.neurobiolaging.2025.07.009","title":"Multi-omic derived cell-type specific Alzheimer disease polygenic risk scores","year":2025,"lang":"en","type":"article","venue":"Neurobiology of Aging","topic":"Bioinformatics and Genomic Networks","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; Medical Research Council; Texas Alzheimer's Research and Care Consortium; National Alzheimer's Coordinating Center; Indiana University; Translational Genomics Research Institute; Wellcome Trust; Vanderbilt University; DoD Alzheimer's Disease Neuroimaging Initiative; University of Miami; Alzheimer's Disease Neuroimaging Initiative; Columbia University; Alzheimer's Association; U.S. Department of Veterans Affairs; University of Toronto; National Science Foundation; Case Western Reserve University; Illinois Department of Public Health; Rush University; School of Medicine, Boston University; Fundación Instituto para la Mejora de la Asistencia Sanitaria; U.S. Department of Health and Human Services; Canadian Institutes of Health Research; Alzheimer’s Disease Research Center, University of Washington; Mayo Clinic; VanEd","keywords":"Polygenic risk score; Disease; Alzheimer's disease; Medicine; Biology; Computational biology; Genetics; Internal medicine; Gene; Genotype; Single-nucleotide polymorphism","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":[0.002341556,0.0009294545,0.0009574568,0.002019587,0.0005121959,0.001346465,0.0006025344,0.0005737804,0.005249286],"category_scores_gemma":[0.005535283,0.0002738793,0.001960848,0.001926371,0.0004352068,0.0003856196,0.001326255,0.001002643,0.0006287546],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00040017,"about_ca_system_score_gemma":0.0004375154,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003397702,"about_ca_topic_score_gemma":0.006127879,"domain_scores_codex":[0.9985139,0.0002942005,0.0001392646,0.0007740699,0.0001696963,0.0001088043],"domain_scores_gemma":[0.997669,0.001286335,0.0003862305,0.000366496,0.0001701487,0.0001216355],"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":[0.001156897,0.00007975244,0.8839705,0.0007238191,0.006060879,0.0009654157,0.0004895307,0.008934245,0.05414548,0.002605509,0.003894638,0.03697344],"study_design_scores_gemma":[0.0001491661,0.0003872238,0.9381098,0.0001451087,0.002373757,0.002282523,0.0003032269,0.02667538,0.008439754,0.009049045,0.01198402,0.0001009681],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8823671,0.0009848328,0.05124248,0.0001653495,0.00007707511,0.0001241901,0.06222342,0.0007544294,0.002060992],"genre_scores_gemma":[0.9199157,0.0003648656,0.0308623,0.0001888733,0.00004666464,0.0002850949,0.04710502,0.0002574721,0.0009739934],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005249286,"threshold_uncertainty_score":0.0175606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0107553969645328,"score_gpt":0.2375821080612484,"score_spread":0.2268267110967155,"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."}}