{"id":"W4391509948","doi":"10.1111/cge.14491","title":"Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients","year":2024,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; University of Toronto; McGill Genome Centre","funders":"University of Social Welfare and Rehabilitation Sciences; Iran National Science Foundation","keywords":"Coronary artery disease; Sanger sequencing; Exome sequencing; Candidate gene; Cohort; Family history; Disease; Genetics; Medicine; Exome; Bioinformatics; Biology; Internal medicine; Gene; DNA sequencing; Mutation","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":[0.0003689633,0.0004197083,0.0003999119,0.0009997716,0.0007733274,0.0005241398,0.0003285479,0.0005622185,0.001737275],"category_scores_gemma":[0.001742007,0.0002398894,0.0006046898,0.0009963029,0.0003002225,0.0001863759,0.0003727457,0.0005287359,0.0001757586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001595786,"about_ca_system_score_gemma":0.0002337348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003116805,"about_ca_topic_score_gemma":0.002343847,"domain_scores_codex":[0.9996593,0.00005950197,0.00003716585,0.0001441254,0.00005689306,0.00004299344],"domain_scores_gemma":[0.999469,0.0001156707,0.0001642873,0.00007723753,0.00006306301,0.0001107743],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002437297,0.00002818036,0.9940171,0.000008943183,0.0001697852,0.001316798,0.0001535552,0.00006569768,0.001631178,0.00006080681,0.0001432832,0.002160979],"study_design_scores_gemma":[0.00001444909,0.00007433291,0.9958642,0.000006665716,0.00009450526,0.003148756,0.0001219618,0.0002214709,0.0001191106,0.00007932151,0.0002492586,0.000005958908],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993224,0.0002377288,0.00008617071,0.00002391284,0.000007838128,0.000005147944,0.0001029138,0.000003170492,0.0002107277],"genre_scores_gemma":[0.9994784,0.0001015637,0.0001087225,0.00002470086,0.00001332054,0.000005128176,0.000165455,0.000002530036,0.0001002234],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003116805,"threshold_uncertainty_score":0.006197333,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01752638011342129,"score_gpt":0.3101326098962431,"score_spread":0.2926062297828219,"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."}}