{"id":"W3112830085","doi":"10.1186/s13148-020-00984-5","title":"Longitudinal data in peripheral blood confirm that PM20D1 is a quantitative trait locus (QTL) for Alzheimer’s disease and implicate its dynamic role in disease progression","year":2020,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; Genentech; National Institutes of Health; Servier; Eisai; BioClinica; U.S. Department of Defense; Alzheimer's Disease Neuroimaging Initiative; Northern California Institute for Research and Education; F. Hoffmann-La Roche; University of Southern California; Biogen; Eli Lilly and Company; Bristol-Myers Squibb; National Institute on Aging; Alzheimer's Association; Foundation for the National Institutes of Health","keywords":"Quantitative trait locus; Disease; Trait; Human genetics; Locus (genetics); Peripheral; Peripheral blood; Biology; Medicine; Genetics; Internal medicine; Gene; Computer science","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004681065,0.0002708872,0.0003681794,0.00003907245,0.00006381953,0.00005263645,0.0004165509,0.0002095054,0.00001256936],"category_scores_gemma":[0.0007788672,0.0002636191,0.0001208007,0.000123814,0.000197692,0.00001260257,0.0003950256,0.0001981357,0.000002515928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007734402,"about_ca_system_score_gemma":0.0002037845,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001025645,"about_ca_topic_score_gemma":0.0001010144,"domain_scores_codex":[0.9974754,0.0001732451,0.0006887055,0.00110038,0.0001818305,0.00038046],"domain_scores_gemma":[0.9983951,0.0001393385,0.0001991837,0.000599627,0.0000896221,0.0005771279],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003645774,0.001311658,0.9116594,0.0002423636,0.0002665999,0.00006117575,0.000377454,0.0006378596,0.03151067,0.0001875539,0.0000875885,0.05001186],"study_design_scores_gemma":[0.005641659,0.002225598,0.8774036,0.0001313405,0.0005465628,9.581112e-7,0.000137418,0.09580117,0.008124968,0.002082522,0.007027973,0.0008762527],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9553908,0.03757801,0.003077895,0.001954744,0.00008039032,0.0009996427,0.0008916537,0.00001134474,0.00001553414],"genre_scores_gemma":[0.9910389,0.005026691,0.002435134,0.0004420477,0.0001271236,0.00008362984,0.0007882809,0.00004560049,0.00001256623],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09516332,"threshold_uncertainty_score":0.9999816,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1494110351952993,"score_gpt":0.4283213286511658,"score_spread":0.2789102934558665,"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."}}