{"id":"W3209701487","doi":"10.1007/s00401-021-02379-z","title":"Genome-wide association study and functional validation implicates JADE1 in tauopathy","year":2021,"lang":"en","type":"article","venue":"Acta Neuropathologica","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":39,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Brain Institute; University of Toronto; University Health Network","funders":"National Cancer Institute; National Institute on Drug Abuse; Medical Research Council; Genentech; National Center for Advancing Translational Sciences; Newcastle upon Tyne Hospitals NHS Foundation Trust; National Institute on Aging; Rossy Foundation; Edmond J. Safra Philanthropic Foundation; National Institutes of Health; Rainwater Charitable Foundation; National Institute of Neurological Disorders and Stroke; Nancy and Buster Alvord Endowment; National Institute for Health and Care Research; Arizona Department of Health Services; Michael J. Fox Foundation for Parkinson's Research","keywords":"Tauopathy; Biology; Progressive supranuclear palsy; Neurofibrillary tangle; Frontotemporal lobar degeneration; Alzheimer's disease; Tau protein; Pathology; Genetics; Neurodegeneration; Dementia; Frontotemporal dementia; Atrophy; Medicine; Senile plaques","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":[0.000251677,0.0001190198,0.0001988834,0.00008348451,0.00008743649,0.00003947485,0.00003350675,0.00005592112,0.0001285598],"category_scores_gemma":[0.001226855,0.00009830959,0.00004273408,0.0002494586,0.00002227072,0.00009614179,0.00009053055,0.0001840692,0.00005428473],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009605872,"about_ca_system_score_gemma":0.0000807085,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004850488,"about_ca_topic_score_gemma":0.000002869172,"domain_scores_codex":[0.9985974,0.0002804955,0.0001863864,0.0003912841,0.0003012643,0.0002431596],"domain_scores_gemma":[0.9991665,0.0002657235,0.00006955398,0.0002006192,0.0001645694,0.0001329872],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001087293,0.001142542,0.9888733,0.000007707595,0.0001686334,0.001830798,0.00007894116,8.490873e-7,0.007386979,0.00000301301,0.0001014159,0.0002970919],"study_design_scores_gemma":[0.001433306,0.0004836112,0.9965743,0.000005508035,0.0001330773,0.00006128695,0.000179281,0.000006868261,0.0007780011,0.0001147583,0.0001563953,0.00007359686],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958913,0.0006602768,0.000003867675,0.002203331,0.00003792257,0.0004268225,0.00001356929,0.00004536667,0.0007175771],"genre_scores_gemma":[0.9987796,0.0002492436,0.00003622696,0.0005502948,0.00004843233,0.00007259895,0.0001389376,0.00001264486,0.0001119998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00770101,"threshold_uncertainty_score":0.4008949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03819045572661912,"score_gpt":0.2974608697270222,"score_spread":0.2592704140004031,"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."}}