{"id":"W4406033262","doi":"10.1186/s13195-024-01659-6","title":"Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer’s disease","year":2025,"lang":"en","type":"article","venue":"Alzheimer s Research & Therapy","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; Instituto de Salud Carlos III; Fonds de Recherche du Québec - Santé; National Institutes of Health; Deutsches Zentrum für Neurodegenerative Erkrankungen; National Institute of Neurological Disorders and Stroke; Korea Health Industry Development Institute; Japan Agency for Medical Research and Development; University of California, San Diego; Fondation Brain Canada; Fleni; European Molecular Biology Laboratory; National Institute on Aging; Alzheimer's Association; National Heart, Lung, and Blood Institute; Cure Alzheimer's Fund; National Cancer Institute; Eidgenössische Technische Hochschule Zürich; U.S. National Library of Medicine; U.S. Department of Veterans Affairs; Canadian Institutes of Health Research; National Science Foundation","keywords":"PSEN1; Disease; Presenilin; Medicine; Dementia; Bioinformatics; Alzheimer's disease; Neurology; Mutation; Neurodegeneration; Neuroscience; Genetics; Biology; Gene; Psychiatry; Pathology","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":[0.0003878141,0.0002988543,0.0004375999,0.0006769974,0.0003682038,0.000505994,0.0002302425,0.0003199247,0.000834415],"category_scores_gemma":[0.0002478219,0.0001680123,0.0005218832,0.0004328495,0.0002499348,0.0002639976,0.0005448571,0.000437016,0.000231292],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003693918,"about_ca_system_score_gemma":0.0002859936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001464628,"about_ca_topic_score_gemma":0.004046874,"domain_scores_codex":[0.99976,0.00001777884,0.00001428891,0.0001056511,0.00006320486,0.0000391652],"domain_scores_gemma":[0.9998348,0.00003523775,0.00004335451,0.0000214079,0.00004271216,0.00002249035],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004178092,0.0000553949,0.03389198,0.0003020468,0.0002075726,0.0002976304,0.0002390682,0.001344468,0.9454443,0.0005661651,0.001023258,0.01621025],"study_design_scores_gemma":[0.00004593179,0.0003093295,0.7117727,0.0001070893,0.0004673656,0.001475741,0.0007613877,0.02616734,0.2401449,0.002741371,0.01590976,0.00009701891],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9736509,0.00255563,0.01297471,0.0001844909,0.00004277509,0.00003837249,0.008625548,0.0003191519,0.00160836],"genre_scores_gemma":[0.975081,0.001011933,0.01200349,0.0002800067,0.00002034813,0.00007736945,0.009859615,0.0001513415,0.001514965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001464628,"threshold_uncertainty_score":0.002912164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09382370023339882,"score_gpt":0.4508123038145291,"score_spread":0.3569886035811303,"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."}}