{"id":"W4408532141","doi":"10.1016/j.gimo.2025.102111","title":"O35: A genotype-first approach among adults at risk for treatable monogenic disorders reveals underdiagnosis and incomplete penetrance","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Penetrance; Genotype; Medicine; Genetics; Pediatrics; Biology; Phenotype; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005967675,0.0005565669,0.0006557166,0.0009140758,0.0008610959,0.0007583679,0.0005228048,0.0009840834,0.00403419],"category_scores_gemma":[0.002236251,0.0001698444,0.000377175,0.0004863827,0.000229454,0.0006115291,0.0005185392,0.0006032107,0.001187222],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004105569,"about_ca_system_score_gemma":0.0005833516,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006994745,"about_ca_topic_score_gemma":0.01012729,"domain_scores_codex":[0.9996009,0.00008392225,0.0000357065,0.00009708523,0.00008714998,0.00009526584],"domain_scores_gemma":[0.9993988,0.0001055437,0.0001350674,0.00004799504,0.000137082,0.0001754581],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000960169,0.0005089677,0.8891625,0.0001182492,0.00004796058,0.01037818,0.0007181765,0.0001104122,0.006759035,0.0002177413,0.01052433,0.08049429],"study_design_scores_gemma":[0.0001538458,0.002270243,0.9388303,0.0004402013,0.0001548086,0.03574173,0.001618056,0.001131093,0.003346895,0.0008044508,0.01544924,0.00005908176],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9792289,0.003609343,0.002485145,0.003354868,0.0002411098,0.0004023396,0.001034841,0.0003132779,0.009330255],"genre_scores_gemma":[0.9919459,0.001038358,0.002227648,0.0020222,0.0001235315,0.00009335136,0.0005001148,0.00004524116,0.00200359],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006994745,"threshold_uncertainty_score":0.01390809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01130077875211726,"score_gpt":0.2737596935853441,"score_spread":0.2624589148332268,"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."}}