{"id":"W4402664594","doi":"10.1038/s41467-024-52298-2","title":"CYP1B1-RMDN2 Alzheimer’s disease endophenotype locus identified for cerebral tau PET","year":2024,"lang":"en","type":"article","venue":"Nature Communications","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Lawrence Berkeley National Laboratory; National Center for Research Resources; National Institute on Aging; Canadian Institutes of Health Research; Genentech; National Institutes of Health; National Institute of General Medical Sciences; H. Lundbeck A/S; Eisai; GHR Foundation; Chan Zuckerberg Initiative; Northern California Institute for Research and Education; Rush University; Servier; Schuler-Stiftung; CurePSP; U.S. National Library of Medicine; National Institute of Neurological Disorders and Stroke; IXICO; University of Pittsburgh; Pfizer; Biogen; BioClinica; Mayo Foundation for Medical Education and Research; Elsie and Marvin Dekelboum Family Foundation; Hope Center for Neurological Disorders; Wellcome Trust; University of Southern California; Mayo Clinic; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; Alzheimer's Association; Novartis Pharmaceuticals Corporation; U.S. Department of Health and Human Services; Avid Radiopharmaceuticals; Arizona Department of Health Services; Michael J. Fox Foundation for Parkinson's Research; Arizona Biomedical Research Commission; Foundation for the National Institutes of Health; Alzheimer's Disease Neuroimaging Initiative; National Center for Advancing Translational Sciences; Medical Research Council; Meso Scale Diagnostics","keywords":"Endophenotype; Neuroscience; Amyloid beta; Alzheimer's disease; Genetic architecture; Tau protein; Positron emission tomography; Genome-wide association study; Disease; Psychology; Locus (genetics); Biology; Medicine; Bioinformatics; Genetics; Cognition; Gene; Internal medicine; Quantitative trait locus; Genotype","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":[0.0006753873,0.0006082631,0.0004961324,0.0007338249,0.0006126559,0.0005567635,0.0003268855,0.0004962783,0.002619751],"category_scores_gemma":[0.001267409,0.0002315336,0.0008136174,0.0007502082,0.0002541576,0.0001241673,0.0004042804,0.0004996958,0.0003315817],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002331763,"about_ca_system_score_gemma":0.0002776215,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003980548,"about_ca_topic_score_gemma":0.006247816,"domain_scores_codex":[0.9994311,0.0001732016,0.00003959162,0.0002270488,0.00007735231,0.00005181855],"domain_scores_gemma":[0.9992846,0.0002068757,0.0002400876,0.0001291021,0.00007028269,0.00006919887],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0033906,0.00009675123,0.9077089,0.0001137846,0.001204846,0.004190018,0.0004083895,0.000302588,0.0695349,0.0003549209,0.001102426,0.01159185],"study_design_scores_gemma":[0.00009103068,0.0001419349,0.9880121,0.00002094924,0.000499587,0.003825834,0.00007339872,0.0002772952,0.004500812,0.0002210971,0.002325467,0.00001061252],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950387,0.000644236,0.001469582,0.0001637245,0.00002516739,0.00003427616,0.001266426,0.00001768556,0.001340143],"genre_scores_gemma":[0.9974737,0.000147408,0.0008251888,0.00007233523,0.00001617942,0.00003356255,0.0008065613,0.00001614542,0.0006088979],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003980548,"threshold_uncertainty_score":0.008763909,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05425972677621483,"score_gpt":0.3875732086735142,"score_spread":0.3333134818972994,"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."}}