{"id":"W4407119843","doi":"10.1093/brain/awaf038","title":"The landscape of autosomal-dominant Alzheimer’s disease: global distribution and age of onset","year":2025,"lang":"en","type":"article","venue":"Brain","topic":"Bioinformatics and Genomic Networks","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute on Aging; Instituto de Salud Carlos III; Canadian Institutes of Health Research; Ministry of Science and ICT, South Korea; Japan Agency for Medical Research and Development; Fondation Brain Canada; Deutsches Zentrum für Neurodegenerative Erkrankungen; National Institute of Mental Health; Fleni; Alzheimer's Association","keywords":"PSEN1; Presenilin; Disease; Genetics; Alzheimer's disease; Biology; Medical genetics; Gene; Medicine; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001361476,0.00005600772,0.00007822016,0.00000475152,0.00004686924,0.000008462924,0.00008727638,0.00004910467,0.000001218688],"category_scores_gemma":[0.00005064263,0.00003960271,0.00003976323,0.00004915517,0.0001042182,0.000001025982,0.0000861051,0.00002268401,2.683654e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002705299,"about_ca_system_score_gemma":0.00005289431,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006829211,"about_ca_topic_score_gemma":0.00002438816,"domain_scores_codex":[0.9996158,0.00002103234,0.000155059,0.00007643765,0.00004068963,0.00009100669],"domain_scores_gemma":[0.9996925,0.00002089813,0.00006189243,0.0001716571,0.00002380881,0.0000292621],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.002590589,0.0003716102,0.1151867,0.0004471048,0.0012637,0.0000136524,0.0002017955,0.0002417752,0.09321984,0.1028241,0.4086881,0.274951],"study_design_scores_gemma":[0.002303164,0.0003565309,0.6718675,0.0001433123,0.0002298671,0.000010892,0.0002411794,0.004334646,0.0222343,0.006929006,0.2910063,0.000343256],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9795832,0.009699703,0.006151399,0.001741896,0.0001595129,0.0002510034,0.0007131837,0.000004190648,0.001695924],"genre_scores_gemma":[0.9991778,0.0001705256,0.00006214209,0.00009114326,0.00001803543,0.000004013119,0.0003124426,0.00000174746,0.0001621297],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5566809,"threshold_uncertainty_score":0.1614952,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005487946860212982,"score_gpt":0.2419092490838549,"score_spread":0.236421302223642,"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."}}