{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006188733,0.0002717877,0.0005931508,0.00259823,0.0002091001,0.0007716166,0.0002607017,0.0001887776,0.001753063],"category_scores_gemma":[0.00212958,0.0001261916,0.0004856081,0.003485785,0.0001864258,0.0004207356,0.0007348862,0.0002455984,0.0004686103],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002444972,"about_ca_system_score_gemma":0.0002972854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004585355,"about_ca_topic_score_gemma":0.007824828,"domain_scores_codex":[0.9995246,0.0001085931,0.00004721018,0.0002079131,0.00005859935,0.00005315384],"domain_scores_gemma":[0.9987758,0.0003325149,0.0004193227,0.0001671137,0.0001685337,0.0001367082],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004175332,0.00002805616,0.9590018,0.0001277373,0.0004867719,0.0003468806,0.0001895661,0.001541082,0.002591907,0.0004369776,0.00308231,0.03174942],"study_design_scores_gemma":[0.0000129013,0.00006824065,0.9902102,0.00003243596,0.0001741533,0.001097235,0.0001694904,0.002033824,0.0003885394,0.001494865,0.004303357,0.00001484692],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9573768,0.002045987,0.002861312,0.0002831556,0.000007683553,0.00002010709,0.03479102,0.0001070901,0.002506812],"genre_scores_gemma":[0.961916,0.001110986,0.002097661,0.00009133694,0.00001582818,0.00003168533,0.03426892,0.00004275858,0.0004248869],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004585355,"threshold_uncertainty_score":0.009117305,"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."}}