{"id":"W4406018006","doi":"10.1136/jmg-2024-110219","title":"Sexual dimorphism in <i>SMAD3</i> pathogenic variant-harbouring individuals","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University; Izaak Walton Killam Health Centre; Children's Hospital of Eastern Ontario","funders":"H2020 European Research Council; Third Health Programme; European Commission; Vlaamse regering; Universiteit Antwerpen; Fonds Wetenschappelijk Onderzoek; Hartstichting","keywords":"Sexual dimorphism; Pedigree chart; Aortic dissection; Ascending aorta; Penetrance; Aorta; Medicine; Aortic aneurysm; Internal medicine; Cohort; Missense mutation; Aneurysm; Biology; Surgery; Genetics; Phenotype; Gene","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":[0.0004784487,0.0004013647,0.0003198863,0.001244535,0.0004307496,0.0003711481,0.0002508455,0.0003484157,0.003055148],"category_scores_gemma":[0.001264913,0.0001559855,0.0002587805,0.0005923561,0.0003370751,0.0001656681,0.0002802598,0.0002668025,0.0002795388],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001087598,"about_ca_system_score_gemma":0.00008827472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007893622,"about_ca_topic_score_gemma":0.0007941471,"domain_scores_codex":[0.9995506,0.0001180081,0.00004900038,0.0001364374,0.00007444374,0.00007138711],"domain_scores_gemma":[0.9993014,0.0002450915,0.0002579052,0.00006005945,0.00004345544,0.00009205468],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004257459,0.00008431575,0.9608285,0.00002473917,0.0000930576,0.005252457,0.0008349513,0.0001033608,0.02475044,0.0002318527,0.0002611513,0.00710933],"study_design_scores_gemma":[0.00001714962,0.0002537722,0.9805847,0.00001234954,0.00004584875,0.01626242,0.0003122896,0.0002247063,0.001396409,0.0001759826,0.0006991397,0.00001519758],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999246,0.00007049411,0.0001835855,0.00001154425,0.000002673852,0.000006700674,0.0001879838,0.000005367122,0.0002857954],"genre_scores_gemma":[0.9992706,0.00005616202,0.0002004704,0.00002273243,0.000007357088,0.000008388575,0.0002382168,0.000005719868,0.0001902631],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003055148,"threshold_uncertainty_score":0.01022053,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007548377017125821,"score_gpt":0.2645345929356984,"score_spread":0.2569862159185726,"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."}}