{"id":"W4402862462","doi":"10.3390/jcm13195725","title":"Clinical Expression of Familial Hypercholesterolemia in Patients from France and French Canada Carrying Identical-by-Descent Pathogenic LDLR Gene Variants: A Proof-of-Concept Study","year":2024,"lang":"en","type":"article","venue":"Journal of Clinical Medicine","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"","keywords":"Familial hypercholesterolemia; LDL receptor; Medicine; Apolipoprotein B; Population; Gene; Genotype; Internal medicine; Cholesterol; Founder effect; Gastroenterology; Genetics; Endocrinology; Lipoprotein; Biology; Haplotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004897275,0.0005400646,0.0004179069,0.0005208687,0.001207052,0.0004606816,0.0002440852,0.0004344505,0.001473502],"category_scores_gemma":[0.0006206462,0.00017304,0.0005229062,0.0004556726,0.0004724253,0.0001726608,0.0004264395,0.0002826028,0.0001992192],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002002875,"about_ca_system_score_gemma":0.001526853,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1367667,"about_ca_topic_score_gemma":0.08336628,"domain_scores_codex":[0.9996523,0.00006931523,0.00002104483,0.0000784591,0.0000776661,0.0001011881],"domain_scores_gemma":[0.9995172,0.00007257432,0.00008503551,0.00003816593,0.0001290034,0.0001579805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005038857,0.001536037,0.9674376,0.00007806088,0.000280491,0.003485341,0.0009533597,0.0001272896,0.009059556,0.0001390638,0.0005974445,0.01126691],"study_design_scores_gemma":[0.0003242508,0.003037663,0.990288,0.000009255703,0.0001358785,0.0038527,0.0006560758,0.000198552,0.0004780686,0.00002257475,0.000977406,0.00001954729],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999038,0.0001268902,0.0001035113,0.00002439531,0.000004715114,0.00005564493,0.0001413315,0.000004320358,0.0005010987],"genre_scores_gemma":[0.9989587,0.0001066822,0.0001863156,0.00006170431,0.00001228458,0.00003000084,0.000361907,0.000001806978,0.0002805212],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8632333,"threshold_uncertainty_score":0.2719412,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03009383346078727,"score_gpt":0.3560933573475351,"score_spread":0.3259995238867478,"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."}}