{"id":"W1588157873","doi":"10.1161/circ.130.suppl_2.17368","title":"Abstract 17368: The Diagnosis of Heterozygous Familial Hypercholesterolemia: Genotype versus Phenotype","year":2014,"lang":"en","type":"article","venue":"Circulation","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal Victoria Hospital","funders":"","keywords":"Medicine; Familial hypercholesterolemia; Genetic testing; Genotyping; Clinical trial; Genotype; Pediatrics; Internal medicine; Genetics","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":[0.003239966,0.0002770648,0.0006490679,0.0008425628,0.00020035,0.0006931409,0.0004307443,0.001039893,0.003535051],"category_scores_gemma":[0.01209954,0.0001517237,0.0002440657,0.0005903679,0.0005737815,0.0005221477,0.0002751191,0.0005291626,0.001104003],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003095194,"about_ca_system_score_gemma":0.0001585032,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004398258,"about_ca_topic_score_gemma":0.0009340406,"domain_scores_codex":[0.9967371,0.001919522,0.0003643416,0.0002807986,0.000605274,0.0000930508],"domain_scores_gemma":[0.9933298,0.004711609,0.0009837534,0.0002180509,0.0005549522,0.0002017134],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01543266,0.0001968071,0.8842767,0.0007403223,0.0006865395,0.001974261,0.0002045167,0.0002414606,0.003238692,0.0005693026,0.007837313,0.08460142],"study_design_scores_gemma":[0.001846043,0.004435034,0.9392306,0.00151453,0.001098578,0.03156732,0.000533281,0.001990223,0.003312185,0.001824538,0.01255697,0.00009072167],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9598024,0.02009315,0.0009008275,0.003458318,0.0008074553,0.0001267239,0.001232939,0.00003008257,0.01354801],"genre_scores_gemma":[0.9957842,0.00124509,0.0007396483,0.0007911944,0.0005203393,0.00004142116,0.0004041741,0.00001005784,0.0004637355],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003535051,"threshold_uncertainty_score":0.01713473,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03113265040110272,"score_gpt":0.273052164412408,"score_spread":0.2419195140113053,"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."}}