{"id":"W4413114276","doi":"10.1007/s11883-025-01325-8","title":"Polygenic Modulation of Monogenic Diseases: Familial Hypercholesterolemia as the Exemplar","year":2025,"lang":"en","type":"review","venue":"Current Atherosclerosis Reports","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; St. Paul's Hospital; University of British Columbia Hospital","funders":"","keywords":"Medicine; Familial hypercholesterolemia; Penetrance; Phenotype; Coronary artery disease; Disease; Bioinformatics; Internal medicine; Genetics; Cholesterol; Biology; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007249105,0.0006474371,0.002721173,0.00023719,0.0001753718,0.00004271466,0.0002742485,0.0003895432,0.00004137917],"category_scores_gemma":[0.0002750396,0.0004138236,0.003058737,0.0006529744,0.0001379184,0.00007743043,0.000208802,0.000667815,0.00002584637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003132714,"about_ca_system_score_gemma":0.001680494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000116531,"about_ca_topic_score_gemma":0.000002714741,"domain_scores_codex":[0.9954399,0.0003619582,0.001781298,0.0009033795,0.001056914,0.0004564977],"domain_scores_gemma":[0.995836,0.0001001686,0.001058539,0.002557037,0.000194626,0.0002536202],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001196001,0.0002347387,0.0005996096,0.02277253,0.0005404001,0.00001372383,0.0000678969,0.000001561572,0.00001615046,0.00001101953,0.0003150766,0.9754153],"study_design_scores_gemma":[0.000496175,0.0001185402,0.008166318,0.03861615,0.007030311,0.0002455802,0.00001639397,0.000006760618,0.000008150942,0.00005613751,0.9448304,0.0004090813],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.007528222,0.9867758,0.00007776749,0.00002834301,0.001676688,0.003619668,0.00008910448,0.00008443876,0.0001200034],"genre_scores_gemma":[0.008110591,0.9897322,0.00002255057,0.00004961287,0.0006784975,0.0006224265,0.0004448957,0.00009255644,0.0002466732],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9750062,"threshold_uncertainty_score":0.9998314,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04471786072185518,"score_gpt":0.3476998069732256,"score_spread":0.3029819462513704,"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."}}