{"id":"W4398241488","doi":"10.1161/atvbaha.123.320287","title":"Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia","year":2024,"lang":"en","type":"article","venue":"Arteriosclerosis Thrombosis and Vascular Biology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Western University; Montreal Clinical Research Institute; McGill University Health Centre; St. Paul's Hospital","funders":"Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada","keywords":"Medicine; Familial hypercholesterolemia; Disease; Coronary artery disease; Internal medicine; Population; Atherosclerotic cardiovascular disease; Diabetes mellitus; Incidence (geometry); Biobank; Bioinformatics; Cholesterol; Endocrinology; Biology; Environmental health","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0009253385,0.0003944449,0.0002516003,0.0007402939,0.0004999983,0.0005547307,0.0002744024,0.0004057708,0.001846548],"category_scores_gemma":[0.003561155,0.0001391308,0.0004034067,0.0007144521,0.000477817,0.0001937733,0.000416396,0.0003441146,0.0001456498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002433249,"about_ca_system_score_gemma":0.0002703851,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006966108,"about_ca_topic_score_gemma":0.006577057,"domain_scores_codex":[0.9987562,0.0006853946,0.00007263631,0.0002322128,0.0001257036,0.0001279062],"domain_scores_gemma":[0.9975921,0.001056507,0.0006444609,0.0002501501,0.0001317457,0.0003250333],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002839246,0.00002465931,0.9957542,0.000005037746,0.0001575364,0.0004317384,0.00008598774,0.00009834598,0.001309646,0.00007949859,0.00007240017,0.001697079],"study_design_scores_gemma":[0.00000360059,0.00004512374,0.9989587,0.000003350858,0.00004455238,0.0004346285,0.00003593566,0.0002954799,0.00006027378,0.00006034349,0.00005495637,0.000003181008],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986396,0.0001692943,0.0003256261,0.0000635039,0.000005710916,0.000006389107,0.0001468307,0.000006575118,0.0006363722],"genre_scores_gemma":[0.9997721,0.00002561297,0.00007123555,0.000008928758,0.000003707125,0.000001939231,0.00006475396,0.000002010983,0.00004966914],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006966108,"threshold_uncertainty_score":0.01385111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06405969805576377,"score_gpt":0.3551024795200244,"score_spread":0.2910427814642606,"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."}}