{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004296931,0.0001828184,0.0007492501,0.0005856922,0.00004052997,0.00002384968,0.0002643493,0.00006239579,0.00001007421],"category_scores_gemma":[0.0002219947,0.000148714,0.0001429461,0.001207699,0.00009919639,0.0001542365,0.0001597379,0.0002305611,4.037491e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007038139,"about_ca_system_score_gemma":0.0006866949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001926053,"about_ca_topic_score_gemma":0.00003531281,"domain_scores_codex":[0.9977719,0.0001610701,0.0007546241,0.0002822347,0.0007595202,0.0002707114],"domain_scores_gemma":[0.9978029,0.0001965236,0.00069251,0.0005559888,0.000425984,0.0003260993],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009759899,0.0007723376,0.9577788,0.0001460965,0.01733226,0.0008185568,0.00006115229,0.0005982888,0.02046537,0.00001095092,0.0002897124,0.0007505012],"study_design_scores_gemma":[0.00660471,0.0008609534,0.9385703,0.0006131925,0.04063742,0.00006706274,0.0001075135,0.00601362,0.005136086,0.00004769178,0.001099732,0.0002417711],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784743,0.01829415,0.0001176944,0.0009331862,0.00006287616,0.0003818202,0.00155428,0.000006435699,0.000175274],"genre_scores_gemma":[0.9958901,0.003043577,0.0005455504,0.0003062784,0.00002666137,0.000002468218,0.0001445594,0.00001751093,0.0000232953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02330516,"threshold_uncertainty_score":0.6064383,"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."}}