{"id":"W2964387056","doi":"10.1194/jlr.m092049","title":"In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family","year":2019,"lang":"en","type":"article","venue":"Journal of Lipid Research","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Israel Science Foundation","keywords":"Genetics; Single-nucleotide polymorphism; Mutation; Familial hypercholesterolemia; Biology; Gene; Genotype; Cholesterol; Endocrinology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01912012,0.0001239674,0.0005127456,0.0005323176,0.00002771596,0.00001391691,0.0002738071,0.0003219504,0.00001092848],"category_scores_gemma":[0.002006612,0.0001188667,0.00006309505,0.0004428374,0.0001215878,0.00003665747,0.00009959979,0.0004580604,3.885374e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001612997,"about_ca_system_score_gemma":0.0005438133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005419034,"about_ca_topic_score_gemma":0.00211821,"domain_scores_codex":[0.9935211,0.004127558,0.001220311,0.0003664299,0.000366383,0.000398196],"domain_scores_gemma":[0.9977906,0.0008978239,0.000297493,0.0003401837,0.0005743576,0.00009947982],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006746404,0.0005942695,0.8417011,0.0001363109,0.00001250183,0.000004144247,0.000817197,0.002681603,0.1491439,0.00006700666,0.00005382385,0.004113482],"study_design_scores_gemma":[0.002214218,0.001763198,0.9793389,0.00006431818,0.000004351408,0.000007499752,0.001776015,0.00903471,0.003135741,0.002451947,0.0001024133,0.0001067086],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980121,0.0001349002,0.0006631698,0.000299187,0.00008530005,0.0006845252,0.00003848519,8.406925e-7,0.00008154687],"genre_scores_gemma":[0.9975122,0.0002103662,0.002034383,0.00003587477,0.00009763736,0.00003233016,0.00005211551,0.000012705,0.00001239925],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1460081,"threshold_uncertainty_score":0.662669,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05684474716568149,"score_gpt":0.3821876530314393,"score_spread":0.3253429058657578,"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."}}