{"id":"W4406202141","doi":"10.1210/clinem/dgaf004","title":"Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study","year":2025,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Thyroid Disorders and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario","funders":"","keywords":"Dysgenesis; Thyroid; Medicine; Cohort; Congenital hypothyroidism; Internal medicine; Inheritance (genetic algorithm); Endocrinology; Pediatrics; Genetics; Biology; Anatomy; 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":[0.0007064325,0.0004783704,0.0004533415,0.0007626539,0.0008464205,0.0004513182,0.0004305062,0.0004774539,0.001844198],"category_scores_gemma":[0.001016769,0.0003184243,0.0005142201,0.0007971996,0.000361379,0.0002726262,0.0009538312,0.0003175833,0.000245835],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005734903,"about_ca_system_score_gemma":0.0006218863,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01252025,"about_ca_topic_score_gemma":0.01304901,"domain_scores_codex":[0.9994599,0.0001394236,0.00003664387,0.0002134254,0.00007100815,0.0000794829],"domain_scores_gemma":[0.9994352,0.00007626424,0.0001558346,0.0001036886,0.00008112001,0.0001478481],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003806019,0.00006172593,0.995784,0.00001370795,0.00008515262,0.001113953,0.00020542,0.00004289721,0.0008594026,0.00004662931,0.0002491786,0.001157404],"study_design_scores_gemma":[0.00008713388,0.0003548926,0.9968766,0.00000758279,0.00006696561,0.001684208,0.0002334445,0.0001899167,0.00009993408,0.00002903655,0.0003630255,0.000007247566],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992404,0.00004406847,0.00007733394,0.00001920031,0.000001413282,0.00001937241,0.0004698299,0.000002766315,0.0001256382],"genre_scores_gemma":[0.998472,0.00004546503,0.0001441412,0.00003313024,0.000007505053,0.00003121975,0.001084607,0.000003175719,0.0001787414],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01252025,"threshold_uncertainty_score":0.02489477,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03073541492406582,"score_gpt":0.3752239486039315,"score_spread":0.3444885336798656,"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."}}