{"id":"W2109770394","doi":"10.1373/clinchem.2014.231365","title":"Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries","year":2014,"lang":"en","type":"article","venue":"Clinical Chemistry","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":212,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials","funders":"National Heart, Lung, and Blood Institute; National Institute on Aging; Agency for Healthcare Research and Quality; Department of Health Research, India; National Institutes of Health; Athens University of Economics and Business; Health and Safety Executive; University College London; British Heart Foundation; National Institute for Health and Care Research; Agency for Health Care Policy and Research; Medical Research Council; John D. and Catherine T. MacArthur Foundation","keywords":"Single-nucleotide polymorphism; SNP; Familial hypercholesterolemia; Apolipoprotein B; Genetics; PCSK9; Biology; Allele; Allele frequency; LDL receptor; Internal medicine; Medicine; Genotype; Cholesterol; Lipoprotein; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.1009643,0.002397179,0.003817888,0.003284125,0.0012983,0.002512021,0.002230475,0.001964967,0.0007565921],"category_scores_gemma":[0.1330447,0.001051893,0.008019179,0.004098943,0.001502439,0.001010437,0.002320188,0.001591502,0.0002830221],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005985361,"about_ca_system_score_gemma":0.000918124,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003684991,"about_ca_topic_score_gemma":0.003129036,"domain_scores_codex":[0.8542358,0.1222461,0.005628803,0.01129633,0.005556468,0.001036472],"domain_scores_gemma":[0.8995286,0.06422555,0.01157528,0.0177542,0.005566629,0.001349721],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01014779,0.0001214394,0.9125936,0.0002708785,0.04776968,0.00049408,0.0005931252,0.006771563,0.003076821,0.0003076028,0.0004926921,0.01736068],"study_design_scores_gemma":[0.00280486,0.005700237,0.8750055,0.0002524351,0.04254261,0.002112151,0.0004548068,0.06287105,0.003568531,0.001917767,0.00254553,0.0002244736],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9729847,0.003281581,0.02174328,0.0002597569,0.0001212283,0.0003570043,0.0005267907,0.00009918645,0.0006264522],"genre_scores_gemma":[0.9922545,0.0001466248,0.006702547,0.00007432308,0.00003391629,0.0001625325,0.0005037144,0.00004138699,0.0000804173],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1009643,"threshold_uncertainty_score":0.5339568,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05691960960916297,"score_gpt":0.3526156645771,"score_spread":0.295696054967937,"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."}}