{"id":"W2097717784","doi":"10.1093/hmg/dds161","title":"Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases","year":2012,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":236,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; University of British Columbia","funders":"National Institute on Aging; Medical Research Council; School of Medicine, Emory University; National Institutes of Health; National Institute of Mental Health; Northwestern University; Arizona Biomedical Research Commission; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; Agence Nationale de la Recherche; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; National Center for Research Resources; University of Pennsylvania; CurePSP; European Commission; Louisiana State University; Arizona Department of Health Services; Emory University","keywords":"Progressive supranuclear palsy; Corticobasal degeneration; Frontotemporal dementia; Tau protein; Biology; Alzheimer's disease; Haplotype; Dementia; Disease; Neuroscience; Genetics; Internal medicine; Gene; Medicine; Allele","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003853692,0.0001423104,0.0002065031,0.00007164205,0.000123956,0.00001883466,0.0001379105,0.00005012015,0.000008328314],"category_scores_gemma":[0.0003081299,0.000089479,0.0001221434,0.0001346323,0.0001351297,0.00004128142,0.0001007941,0.0001024269,7.924767e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003647923,"about_ca_system_score_gemma":0.000113156,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001924409,"about_ca_topic_score_gemma":0.00009202102,"domain_scores_codex":[0.9987282,0.0002303314,0.0002226619,0.0001979623,0.0002358329,0.0003850645],"domain_scores_gemma":[0.9989842,0.0003191478,0.00008939922,0.0003980006,0.00004851711,0.0001606989],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001196351,0.0007779222,0.986442,0.000143695,0.002068095,0.00003709927,0.0008378053,0.00005752265,0.003604304,0.001476259,0.00004553178,0.003313418],"study_design_scores_gemma":[0.002068125,0.0002690029,0.9842765,0.0002762451,0.001371973,0.00001992318,0.0002135134,0.0009110754,0.005092035,0.005295883,0.00009175527,0.0001139145],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8328691,0.1650654,0.0001276063,0.0001883652,0.00001752779,0.001630894,0.00007106875,0.000005386361,0.00002474459],"genre_scores_gemma":[0.998392,0.0006415141,0.0005656278,0.00007340133,0.0000568889,0.000223697,0.00001706615,0.00002772123,0.000002040578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.165523,"threshold_uncertainty_score":0.3648848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05154003243335083,"score_gpt":0.3374957015710716,"score_spread":0.2859556691377207,"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."}}