{"id":"W4401599762","doi":"10.1016/j.atherosclerosis.2024.118378","title":"Clinical expression of familial hypercholesterolemia (FH) in two populations carrying identical by descent FH-causing gene variants","year":2024,"lang":"en","type":"article","venue":"Atherosclerosis","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Université du Québec à Chicoutimi","funders":"","keywords":"Familial hypercholesterolemia; Genetics; Gene; Biology; Cholesterol; Endocrinology","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":[0.001257774,0.0001861241,0.0005510895,0.000114325,0.00007941199,0.00004420015,0.00008567853,0.0001646774,0.00003609339],"category_scores_gemma":[0.0001272205,0.0001600481,0.000364387,0.0003169128,0.00008075905,0.0001383639,0.00009159025,0.0004370089,0.00001847131],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001620347,"about_ca_system_score_gemma":0.0001259906,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001110009,"about_ca_topic_score_gemma":0.00005619178,"domain_scores_codex":[0.9975148,0.0002461261,0.0008700665,0.0004843832,0.0005341972,0.0003503734],"domain_scores_gemma":[0.9990879,0.00006762035,0.00007106544,0.0005120511,0.00005699466,0.0002043905],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00008610911,0.0004173303,0.2555446,0.0003005478,0.0001009171,0.00003380133,0.0005615817,0.00003158604,0.7125834,0.0000976146,0.0005071273,0.02973546],"study_design_scores_gemma":[0.003628489,0.0002168031,0.9561008,0.003242245,0.0003688528,0.00004916693,0.0001810709,0.002283168,0.03285569,0.0001154573,0.0006540119,0.0003043048],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919095,0.001318727,0.005299201,0.0002196209,0.0006110274,0.0004636124,0.00002948015,0.00006924391,0.00007955587],"genre_scores_gemma":[0.9955869,0.0004523751,0.003202243,0.0002113652,0.0003860602,0.00002762929,0.00003390919,0.0000532679,0.0000462664],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7005562,"threshold_uncertainty_score":0.6526571,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0807795786072937,"score_gpt":0.3825702808613516,"score_spread":0.3017907022540579,"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."}}