{"id":"W4213350342","doi":"10.1038/s41380-022-01437-6","title":"Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation","year":2022,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Olav Thon Stiftelsen; IXICO; H. Lundbeck A/S; Genentech; Vlaamse regering; Servier; Innovative Medicines Initiative; University College London Hospitals NHS Foundation Trust; Vetenskapsrådet; Eisai; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Research Foundation; UK Dementia Research Institute; European Federation of Pharmaceutical Industries and Associations; National Institute on Aging; National Institute for Health and Care Research; Northern California Institute for Research and Education; Pfizer; Biogen; BioClinica; Universiteit Antwerpen; Alzheimer's Association; Stiftelsen för Gamla Tjänarinnor; Hjärnfonden; European Commission; Familjen Erling-Perssons Stiftelse; Steno Diabetes Center Copenhagen; University of Southern California; Novartis Pharmaceuticals Corporation; Eusko Jaurlaritza; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; F. Hoffmann-La Roche; Alzheimer's Drug Discovery Foundation; Alzheimer's Disease Neuroimaging Initiative; Meso Scale Diagnostics; Foundation for the National Institutes of Health","keywords":"Neurogranin; Inflammation; Dementia; Biomarker; Neuroscience; Frontotemporal dementia; Alzheimer's disease; Medicine; Biology; Disease; Genetics; Internal medicine; Signal transduction","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":[0.0001374853,0.0001662826,0.0002368161,0.0001684093,0.0001141906,0.00001795634,0.00006234653,0.00003155066,0.0001045242],"category_scores_gemma":[0.00002707267,0.0001491219,0.00004925707,0.0002587425,0.00007697635,0.00009419537,0.0001193131,0.0002377168,0.000002817301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003532235,"about_ca_system_score_gemma":0.0004544482,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004234965,"about_ca_topic_score_gemma":0.000009865976,"domain_scores_codex":[0.9985112,0.0001618013,0.0002190074,0.0003371068,0.0005061476,0.0002647711],"domain_scores_gemma":[0.9992844,0.00001645379,0.0001066714,0.0002375068,0.00005654968,0.0002984373],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003498727,0.0009715986,0.987586,0.0002035913,0.002136455,0.0007334219,0.0001369227,0.0000198248,0.0007554565,0.000721163,0.0004641683,0.00277264],"study_design_scores_gemma":[0.004264527,0.0008625166,0.9920679,0.00009137498,0.000752923,0.00003489686,0.0001267464,0.0003454361,0.0003694721,0.0008476506,0.00005822423,0.0001783703],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9887655,0.008170131,0.000008888015,0.001694747,0.00006391994,0.0007740058,0.0001874116,0.00002189126,0.0003134574],"genre_scores_gemma":[0.998913,0.00004682377,0.000422337,0.0002124575,0.00002821653,0.0001479826,0.0001800343,0.0000315964,0.00001748717],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01014752,"threshold_uncertainty_score":0.6081017,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009618612136240748,"score_gpt":0.2687546903722545,"score_spread":0.2591360782360137,"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."}}