{"id":"W4307024187","doi":"10.1016/j.cjca.2022.08.163","title":"GENETIC TESTING FOR FAMILIAL HYPERCHOLESTEROLEMIA IN THE PROVINCE OF QUÉBEC: A SINGLE CENTER RETROSPECTIVE COHORT STUDY","year":2022,"lang":"en","type":"article","venue":"Canadian Journal of Cardiology","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Familial hypercholesterolemia; Genetic testing; PCSK9; Multiplex ligation-dependent probe amplification; Cohort; Apolipoprotein B; LDL receptor; Genetic diagnosis; Family history; Internal medicine; Genetics; Bioinformatics; Gene; Exon; Cholesterol; Biology; Lipoprotein","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008882788,0.000794613,0.0008313809,0.001505093,0.003855488,0.001950879,0.002056003,0.001307184,0.003068951],"category_scores_gemma":[0.002481968,0.0008304964,0.0008898905,0.004578824,0.001016397,0.000744452,0.000933103,0.001094008,0.0004220419],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01416734,"about_ca_system_score_gemma":0.01167868,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.974361,"about_ca_topic_score_gemma":0.9773178,"domain_scores_codex":[0.9987079,0.000169813,0.00008222647,0.0003803058,0.0002474786,0.0004121621],"domain_scores_gemma":[0.9972663,0.0002211158,0.0005754808,0.0002426119,0.001146116,0.0005483722],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007577286,0.00004240613,0.9975024,0.00001081856,0.0001152972,0.000221371,0.0002956812,0.0000481801,0.0002208371,0.00004720885,0.0006161486,0.0008037506],"study_design_scores_gemma":[0.00001844531,0.00003580101,0.9980793,0.0000248441,0.00007092501,0.0001867722,0.0007709771,0.000276231,0.00002849744,0.00002208204,0.0004736632,0.00001241369],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934104,0.0007018172,0.0002411988,0.0002336221,0.0000227543,0.00006728741,0.003861933,0.0000181428,0.001442835],"genre_scores_gemma":[0.9977189,0.0002695837,0.0001609291,0.0001282468,0.000007767221,0.00002868687,0.0009555445,0.000007079889,0.0007232628],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.025639,"threshold_uncertainty_score":0.1027918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02030095207955857,"score_gpt":0.2447966738554148,"score_spread":0.2244957217758562,"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."}}