{"id":"W4380786116","doi":"10.1161/circ.146.suppl_1.13821","title":"Abstract 13821: Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia","year":2022,"lang":"en","type":"article","venue":"Circulation","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Familial hypercholesterolemia; Medicine; PCSK9; Internal medicine; LDL receptor; Apolipoprotein B; Genetic testing; Myocardial infarction; Cohort; Diabetes mellitus; Genetic disorder; Unstable angina; Cardiology; Disease; Cholesterol; Lipoprotein; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003341798,0.0003676025,0.0002748621,0.0009582507,0.0007168197,0.0004562346,0.0003537556,0.0005424995,0.001656862],"category_scores_gemma":[0.001593239,0.0001786569,0.0001695564,0.0006291674,0.0003267129,0.0001554412,0.0002579577,0.0003060049,0.0003203404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003519001,"about_ca_system_score_gemma":0.0004158677,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01146662,"about_ca_topic_score_gemma":0.01610673,"domain_scores_codex":[0.9995633,0.0000718814,0.00005653799,0.0001170158,0.0001236676,0.00006761622],"domain_scores_gemma":[0.9993026,0.0001874729,0.0002103673,0.00004016555,0.0001222341,0.0001371463],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001406613,0.00003449106,0.9907717,0.00001319541,0.00002035434,0.003802062,0.000177875,0.0000418809,0.002822772,0.00002715314,0.0003458007,0.001802054],"study_design_scores_gemma":[0.00001673311,0.00009419273,0.9888436,0.00001108677,0.00002741539,0.009526957,0.0002105603,0.0004062676,0.0005277316,0.00003817635,0.0002892023,0.000008261792],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993148,0.00006910112,0.00007372617,0.00003040578,0.000004093221,0.000009774001,0.0001594862,0.000004041369,0.0003346434],"genre_scores_gemma":[0.9994919,0.00002570094,0.0001254922,0.00003473966,0.000006914775,0.000005247145,0.0002162226,0.000002581094,0.00009110349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01146662,"threshold_uncertainty_score":0.02279973,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01441030783865289,"score_gpt":0.2493758920041041,"score_spread":0.2349655841654512,"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."}}