{"id":"W4388871502","doi":"10.1093/eurheartj/ehad655.2023","title":"In search of genetic modifiers that explain the phenotypic variability in SMAD3-related aortopathy","year":2023,"lang":"en","type":"article","venue":"European Heart Journal","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Fonds Wetenschappelijk Onderzoek","keywords":"Gene; Genetics; Candidate gene; Medicine; Phenotype; Genetic linkage; Computational biology; Biology","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":[0.0002940833,0.0004751153,0.000285152,0.0009725092,0.0002109514,0.0002591145,0.00029569,0.0003661308,0.004432866],"category_scores_gemma":[0.0003646686,0.0001158691,0.0004279781,0.0004900009,0.0002175693,0.0001350481,0.0002891248,0.0003399163,0.0003138246],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001631333,"about_ca_system_score_gemma":0.0001557269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004201526,"about_ca_topic_score_gemma":0.0005429353,"domain_scores_codex":[0.9998368,0.00003026563,0.00001806554,0.00005677405,0.0000379987,0.00002004907],"domain_scores_gemma":[0.9997539,0.0001083774,0.00007140933,0.00002165113,0.00001462643,0.00002999075],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00144049,0.000192572,0.1205316,0.0002387595,0.000320014,0.0103591,0.0002629836,0.0008354065,0.8439609,0.0009675956,0.0004508705,0.02043961],"study_design_scores_gemma":[0.0002161062,0.0007311982,0.6001641,0.0001508789,0.001058323,0.03589342,0.0005000834,0.009318572,0.3394908,0.002143179,0.01027636,0.0000569035],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946395,0.0004722671,0.003269033,0.0001449782,0.00001227171,0.00001644822,0.000668649,0.00006248178,0.0007144901],"genre_scores_gemma":[0.995708,0.0002379684,0.002919136,0.00007145209,0.00001254622,0.0000158395,0.0005064212,0.00001604762,0.000512486],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004432866,"threshold_uncertainty_score":0.0148294,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0479896505765566,"score_gpt":0.3236321417133881,"score_spread":0.2756424911368315,"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."}}