{"id":"W2070580285","doi":"10.1503/cmaj.051313","title":"Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease","year":2006,"lang":"en","type":"review","venue":"Canadian Medical Association Journal","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":126,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"Genome Canada; Heart and Stroke Foundation of Canada","keywords":"Familial hypercholesterolemia; Medicine; Proband; Coronary artery disease; LDL receptor; Internal medicine; Disease; Cardiology; Bioinformatics; Lipoprotein; Cholesterol; Mutation; Genetics; Gene; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.0003573813,0.0003020295,0.00049045,0.0009154856,0.000300384,0.0006455062,0.0002907462,0.0007891456,0.001073896],"category_scores_gemma":[0.001505033,0.0001036508,0.0001174434,0.001008272,0.0003012475,0.0006230788,0.0002504736,0.0004485296,0.0005168639],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002432957,"about_ca_system_score_gemma":0.0005238316,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004130511,"about_ca_topic_score_gemma":0.003920151,"domain_scores_codex":[0.9995433,0.00008126817,0.00004742347,0.00009300237,0.000176402,0.00005867802],"domain_scores_gemma":[0.9993294,0.0001280326,0.0001736311,0.00003311767,0.0001946167,0.0001410475],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002351342,0.00009005817,0.7417663,0.0005737981,0.0001175728,0.02726121,0.0005214798,0.00009017213,0.004861089,0.0009284908,0.01357345,0.2099813],"study_design_scores_gemma":[0.00002121496,0.0001856868,0.8331358,0.0008105666,0.0002228469,0.1403436,0.00101648,0.0004073082,0.0004244172,0.0009362869,0.02245625,0.00003942156],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.7695343,0.1975547,0.002855057,0.01138293,0.000969801,0.0000509026,0.0008514859,0.0002186732,0.01658211],"genre_scores_gemma":[0.940401,0.05364027,0.001110008,0.001972823,0.001033337,0.000009299905,0.0005382362,0.00002170371,0.001273338],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.004130511,"threshold_uncertainty_score":0.008212924,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03424842832426117,"score_gpt":0.2970418995444079,"score_spread":0.2627934712201467,"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."}}