{"id":"W2805336640","doi":"10.1016/j.jacl.2018.05.014","title":"Co-occurrence of heterozygous CREB3L3 and APOA5 nonsense variants and polygenic risk in a patient with severe hypertriglyceridemia exacerbated by estrogen administration","year":2018,"lang":"en","type":"article","venue":"Journal of clinical lipidology","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"","keywords":"Medicine; Gemfibrozil; Hypertriglyceridemia; Internal medicine; Endocrinology; Pregnancy; Discontinuation; Triglyceride; Estrogen; Cholesterol; Genetics; Biology","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":[],"consensus_categories":[],"category_scores_codex":[0.0009065468,0.0001521464,0.0008790932,0.0001177046,0.00003100544,0.000008090969,0.000065095,0.000231888,0.00004012288],"category_scores_gemma":[0.002004117,0.0001046036,0.00008185708,0.0001298769,0.000533888,0.00009962399,0.00002348769,0.000446901,0.00000202716],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001014129,"about_ca_system_score_gemma":0.0003263803,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003889014,"about_ca_topic_score_gemma":0.00003455106,"domain_scores_codex":[0.9975655,0.0004373009,0.001341597,0.0002334869,0.0002100028,0.0002121021],"domain_scores_gemma":[0.9975197,0.0007857439,0.001020286,0.0001731639,0.0002185227,0.0002825416],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.02919455,0.001472953,0.9122589,0.0000866249,0.0003227762,0.0001151492,0.0005633276,0.000002339346,0.004714398,0.00002646135,0.00814024,0.04310229],"study_design_scores_gemma":[0.04095373,0.06823923,0.8349051,0.0004839508,0.001300577,0.0159825,0.0009111981,0.0003457131,0.003938765,0.0002857243,0.0320583,0.0005951335],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975241,0.0008434054,0.0001430214,0.0004545517,0.0006705046,0.0001888621,0.00007363415,0.000005135452,0.00009678226],"genre_scores_gemma":[0.9965058,0.001080114,0.001322796,0.0004812142,0.0005746978,0.000001566411,0.00001023588,0.000009657791,0.00001389474],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07735372,"threshold_uncertainty_score":0.4265611,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02601434852517547,"score_gpt":0.3482236209926231,"score_spread":0.3222092724674476,"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."}}