{"id":"W2100818084","doi":"10.1371/journal.pgen.1003685","title":"The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers","year":2013,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institute on Aging; Medical Research Council; Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University in St. Louis; Menzies Centre for Australian Studies, King's College London, University of London; University of California, San Diego; National Institutes of Health; Burroughs Wellcome Fund; H. Lundbeck A/S; Cardiff University; Eli Lilly and Company; Alfried Krupp von Bohlen und Halbach-Stiftung; Eisai; Alzheimer's Society; Wellcome Trust; Bundesministerium für Bildung und Forschung; Northern California Institute for Research and Education; Biogen; BioClinica; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; University of California, Los Angeles; Foundation for Barnes-Jewish Hospital; University College London Hospitals NHS Foundation Trust; Bayer HealthCare; Alzheimer's Disease Neuroimaging Initiative; Illinois Department of Public Health; Bristol-Myers Squibb; AstraZeneca; Amorfix Life Sciences; Alzheimer's Association; Foundation for the National Institutes of Health","keywords":"PSEN1; Apolipoprotein E; Allele; Biology; Alzheimer's disease; Internal medicine; Genetics; Cerebrospinal fluid; Dementia; Endocrinology; Disease; Presenilin; Medicine; Gene","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":[0.0003318739,0.0008830904,0.0004877276,0.0007955241,0.0005464395,0.0005605465,0.0003078584,0.001060379,0.003169853],"category_scores_gemma":[0.001562549,0.0002923311,0.0003346718,0.0007473814,0.0004049342,0.0002563489,0.0002843753,0.0004850536,0.0004499202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001550428,"about_ca_system_score_gemma":0.0001567257,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00215022,"about_ca_topic_score_gemma":0.001514955,"domain_scores_codex":[0.9997569,0.00005740676,0.00002566657,0.0000981913,0.00003944756,0.00002240799],"domain_scores_gemma":[0.9995173,0.0001615588,0.0001912199,0.00002849276,0.00002653789,0.00007486873],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004922505,0.0002764973,0.9425812,0.0001311908,0.0006446141,0.008067857,0.0003307307,0.0003422488,0.02686962,0.000158426,0.0009865883,0.01468867],"study_design_scores_gemma":[0.00008764718,0.0003183045,0.9861642,0.00002434023,0.0003330192,0.009368763,0.0001349391,0.0007790441,0.001648009,0.0003373342,0.0007891693,0.00001519967],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985608,0.0006600621,0.000128617,0.00005326307,0.00001849898,0.000005520319,0.0001330657,0.00001698407,0.0004232866],"genre_scores_gemma":[0.9988989,0.000247524,0.0001672046,0.00003894684,0.00002899181,0.000004246888,0.0001248135,0.000006475046,0.0004829767],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003169853,"threshold_uncertainty_score":0.01060426,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02407818579218656,"score_gpt":0.2780611291316543,"score_spread":0.2539829433394677,"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."}}