{"id":"W4414478076","doi":"10.1080/01677063.2025.2561589","title":"Analysis of whole genome sequence data shows association of Alzheimer’s disease with rare coding variants in <i>ABCA7</i> , <i>PSEN1</i> , <i>SORL1</i> and <i>TREM2</i>","year":2025,"lang":"en","type":"article","venue":"Journal of Neurogenetics","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Deafness and Other Communication Disorders; National Institute on Aging; Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University in St. Louis; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; IXICO; Karl-Franzens-Universität Graz; H. Lundbeck A/S; Medical Research Council; Servier; National Institutes of Health; Österreichische Forschungsförderungsgesellschaft; Oesterreichische Nationalbank; University of Southern California; Eisai; Ministry of Science, ICT and Future Planning; University of Toronto; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; National Institute on Minority Health and Health Disparities; European Commission; Genentech; Erasmus Medisch Centrum; University of Pennsylvania; Medizinische Universität Graz; Austrian Science Fund; National Human Genome Research Institute; Russian Foundation for Basic Research; ZonMw; Pfizer; University of Washington; EU Joint Programme – Neurodegenerative Disease Research; Texas Alzheimer's Research and Care Consortium; Vanderbilt University; Northern California Institute for Research and Education; Hope Center for Neurological Disorders; University College London; Case Western Reserve University; Biogen; University of Miami; BioClinica; Bristol-Myers Squibb; U.S. Department of Defense; Eli Lilly and Company; National Heart, Lung, and Blood Institute; Novartis Pharmaceuticals Corporation; Alzheimer's Disease Neuroimaging Initiative; Meso Scale Diagnostics; Alzheimer's Association","keywords":"Nonsynonymous substitution; Gene; Genome-wide association study; Genetic association; Disease; Exome sequencing; Exome; Whole genome sequencing; Association test","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":[0.000563764,0.0001950704,0.0003241829,0.0009709399,0.0002645343,0.0004145461,0.0001344925,0.0003461359,0.001268561],"category_scores_gemma":[0.001655041,0.000124456,0.0004268857,0.001128325,0.0003571144,0.0001549757,0.0002369493,0.0003036666,0.0002036131],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001285767,"about_ca_system_score_gemma":0.000115339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001543292,"about_ca_topic_score_gemma":0.003020484,"domain_scores_codex":[0.9994855,0.00009933912,0.00005604947,0.0002041224,0.0001009928,0.00005398106],"domain_scores_gemma":[0.9987311,0.0006402053,0.0003438136,0.0001056832,0.0000908397,0.00008834209],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00202847,0.0001255293,0.7665585,0.0002121598,0.0009137588,0.001878292,0.0004822919,0.0005974656,0.2078678,0.0001326906,0.0004759354,0.018727],"study_design_scores_gemma":[0.00001260865,0.0001125197,0.9951848,0.000004539699,0.00007866778,0.001183792,0.00007118371,0.0003525669,0.002572415,0.00005255835,0.0003683032,0.000006088743],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988872,0.0001418573,0.0003311722,0.00002085771,0.000002635657,0.000002895918,0.0004573463,0.000007029264,0.0001490009],"genre_scores_gemma":[0.9969668,0.0001483984,0.0008385687,0.00003109607,0.000006203955,0.000007013395,0.001801071,0.00000604604,0.0001949506],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001543292,"threshold_uncertainty_score":0.004243791,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05113716043376629,"score_gpt":0.3277616271651109,"score_spread":0.2766244667313446,"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."}}