{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001104633,0.0004406405,0.0006722489,0.0007212024,0.0006005706,0.0001715225,0.0003455451,0.0001833373,0.00008988784],"category_scores_gemma":[0.0002838986,0.0003499862,0.0002014426,0.001384561,0.001161161,0.0003193437,0.0002573027,0.001012468,0.0001136525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000138215,"about_ca_system_score_gemma":0.0009138732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001684466,"about_ca_topic_score_gemma":0.0003981996,"domain_scores_codex":[0.9953786,0.0008645367,0.0005665278,0.000885879,0.001017732,0.001286733],"domain_scores_gemma":[0.9964827,0.001113125,0.000074046,0.0008293556,0.0006062554,0.0008944698],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.022935,0.007640845,0.4671251,0.0001381379,0.05518638,0.002248319,0.007585051,0.00002448471,0.00220171,0.006088381,0.01070477,0.4181218],"study_design_scores_gemma":[0.0279302,0.002063028,0.9200962,0.0009717335,0.002135822,0.00003767088,0.008461875,0.002173442,0.0078961,0.0190514,0.008130032,0.001052511],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.763418,0.224654,0.00002229755,0.00445343,0.0001609435,0.004195806,0.0003518367,0.0001316726,0.002612067],"genre_scores_gemma":[0.9870026,0.01058106,0.0003371488,0.0004614677,0.000129736,0.0008263447,0.00030866,0.00006049081,0.0002925019],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4529711,"threshold_uncertainty_score":0.9998952,"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."}}