{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000193036,0.0001973894,0.0002494933,0.00006657534,0.0002152257,0.0000422318,0.0002362516,0.00005387103,0.0001517256],"category_scores_gemma":[0.0004016212,0.0001025799,0.0001322051,0.0002602411,0.0003738171,0.00004286956,0.0001189115,0.0002189852,0.0001148632],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003874221,"about_ca_system_score_gemma":0.0005055737,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009661141,"about_ca_topic_score_gemma":0.00007962124,"domain_scores_codex":[0.9980793,0.000275422,0.0003255265,0.0002461439,0.0006140027,0.0004596344],"domain_scores_gemma":[0.9979057,0.0003742711,0.0001196112,0.0007996056,0.0002200089,0.000580774],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007098381,0.002229917,0.9671443,0.00008606809,0.01742683,0.0003110816,0.0004187407,0.0001687049,0.0002744801,0.0002658154,0.004445299,0.006518977],"study_design_scores_gemma":[0.003377376,0.0005305306,0.9620051,0.0001737444,0.006731335,0.00001503833,0.0006579019,0.01614575,0.006341055,0.002605736,0.001092758,0.0003236849],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.942397,0.05408227,0.000002271274,0.001286856,0.00004386678,0.00141855,0.0001563197,0.00002283221,0.0005900314],"genre_scores_gemma":[0.9953502,0.003995895,0.00008703331,0.0001503616,0.0001003765,0.0002241653,0.00003492635,0.00003273984,0.00002432031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05295318,"threshold_uncertainty_score":0.4183087,"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."}}