{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001088806,0.0007608628,0.0005741869,0.001540974,0.0009525484,0.001062664,0.0007040959,0.001033674,0.002927645],"category_scores_gemma":[0.00184655,0.0002568259,0.0009307084,0.001512526,0.0005367896,0.0003448979,0.0005385492,0.001076992,0.0004358139],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002628045,"about_ca_system_score_gemma":0.000223345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001256458,"about_ca_topic_score_gemma":0.001782779,"domain_scores_codex":[0.9994968,0.000125186,0.00007707662,0.0001799641,0.00007029239,0.00005063357],"domain_scores_gemma":[0.9985,0.0005657307,0.0004716934,0.0001595807,0.0001692232,0.0001337675],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006285279,0.0004522585,0.829012,0.0005019999,0.003494024,0.00581119,0.0004542734,0.0005614711,0.1255565,0.001194443,0.00205999,0.02461655],"study_design_scores_gemma":[0.0001858229,0.0003304573,0.9656745,0.00007472536,0.001696398,0.008780955,0.0002841135,0.001077412,0.01624718,0.0009941598,0.004614864,0.00003945411],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922734,0.003508344,0.0009668808,0.0005149839,0.0001213456,0.00001160215,0.001452542,0.00003323604,0.001117557],"genre_scores_gemma":[0.9963487,0.0008300624,0.0009739845,0.0001665044,0.00005097895,0.00001048911,0.0009427748,0.00001680748,0.0006596456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002927645,"threshold_uncertainty_score":0.009793878,"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."}}