{"id":"W4312035681","doi":"10.21203/rs.3.rs-2356131/v1","title":"Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer’s disease","year":2022,"lang":"en","type":"preprint","venue":"Research Square","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Instituto de Salud Carlos III; National Institutes of Health; Deutsches Zentrum für Neurodegenerative Erkrankungen; 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; Cure Alzheimer's Fund; Eidgenössische Technische Hochschule Zürich; U.S. Department of Veterans Affairs; Canadian Institutes of Health Research; National Science Foundation","keywords":"PSEN1; Disease; Medicine; Alzheimer's disease; Early-onset Alzheimer's disease; Genetics; Biology; Presenilin; 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":[0.0003510607,0.0003895251,0.0004892367,0.001012906,0.0002387824,0.0005548341,0.0002368174,0.0004499637,0.00183502],"category_scores_gemma":[0.0005160167,0.0002020206,0.0004217622,0.0005762313,0.0002633769,0.0002951777,0.0005880831,0.0004354759,0.0002177993],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002103046,"about_ca_system_score_gemma":0.0001279305,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008083166,"about_ca_topic_score_gemma":0.001413592,"domain_scores_codex":[0.9997925,0.00002513941,0.0000142146,0.00008827327,0.00004274312,0.00003714677],"domain_scores_gemma":[0.9997501,0.00007177905,0.00007202721,0.00004569495,0.00002580256,0.00003457192],"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":[0.001169827,0.0000558455,0.05494088,0.00007028027,0.0002813563,0.0005880397,0.0002326368,0.000538575,0.9252153,0.0006021992,0.0003640811,0.01594104],"study_design_scores_gemma":[0.00004160341,0.000176528,0.8914323,0.00001977277,0.0003453835,0.002229263,0.000361231,0.00368435,0.09695699,0.002789767,0.001933804,0.00002902938],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958326,0.0005058708,0.00214888,0.00008890188,0.00001092146,0.00000376485,0.0007833935,0.00004642008,0.0005791724],"genre_scores_gemma":[0.9967823,0.0002229466,0.001445186,0.00008280101,0.00001236945,0.000007315053,0.00078334,0.00005199722,0.000611718],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00183502,"threshold_uncertainty_score":0.006138742,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0628167021218123,"score_gpt":0.4351794414152463,"score_spread":0.3723627392934341,"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."}}