{"id":"W4386053111","doi":"10.9778/cmajo.20220108","title":"Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study","year":2023,"lang":"en","type":"article","venue":"CMAJ Open","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; University of British Columbia","funders":"","keywords":"Familial hypercholesterolemia; Medicine; LDL receptor; PCSK9; Apolipoprotein B; Cohort; Genetic testing; Retrospective cohort study; Internal medicine; Pediatrics; Cholesterol; Lipoprotein","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0006034421,0.0005794924,0.000528723,0.0009732265,0.002322804,0.001043802,0.001146657,0.0006481453,0.002319644],"category_scores_gemma":[0.00144036,0.000403237,0.0005648349,0.003466936,0.0006784131,0.0003619186,0.0005812094,0.0006103343,0.0003070954],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01358375,"about_ca_system_score_gemma":0.0118449,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9725375,"about_ca_topic_score_gemma":0.9767466,"domain_scores_codex":[0.9992197,0.00005743608,0.00005127462,0.0002535211,0.0002276879,0.0001905469],"domain_scores_gemma":[0.9983493,0.0000974829,0.0003963888,0.000112641,0.0006763036,0.0003677735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005817436,0.00001698733,0.9973322,0.00001747014,0.00005810815,0.0001669873,0.0001465962,0.00003731979,0.0002061139,0.00003528787,0.0008518617,0.0010729],"study_design_scores_gemma":[0.00001494632,0.00002736099,0.9984889,0.00002402794,0.00004316241,0.0002093392,0.0002963914,0.0002153326,0.00003353042,0.00001446553,0.0006238097,0.000008642422],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884743,0.001012443,0.0002624605,0.000240862,0.00002131876,0.0001261924,0.007887713,0.00001891817,0.001955658],"genre_scores_gemma":[0.9967288,0.0003572615,0.0002018517,0.0001883711,0.000008114036,0.00003484787,0.002014853,0.000005578908,0.000460379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02746248,"threshold_uncertainty_score":0.09855747,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0382346007790937,"score_gpt":0.2850428035515995,"score_spread":0.2468082027725058,"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."}}