{"id":"W4408118805","doi":"10.1186/s13073-025-01440-w","title":"Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity","year":2025,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Hyperglycemia and glycemic control in critically ill and hospitalized patients","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"Wellcome Trust; Wellcome","keywords":"Hyperinsulinism; Congenital hyperinsulinism; Proband; Medicine; Cohort; Hyperinsulinemic hypoglycemia; Hyperinsulinemia; Disease; Hypoglycemia; Internal medicine; Genetics; Bioinformatics; Biology; Insulin; Mutation; Gene; Insulin resistance","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":[0.0003490364,0.000593436,0.0002535071,0.0006667182,0.0002215579,0.0003020401,0.0003083889,0.0003097789,0.002729604],"category_scores_gemma":[0.001287489,0.0001284495,0.000194195,0.0006761241,0.0003857419,0.0002017269,0.0004538391,0.0003236376,0.0002715781],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002010195,"about_ca_system_score_gemma":0.0001215596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006528772,"about_ca_topic_score_gemma":0.0005099419,"domain_scores_codex":[0.9997372,0.00004473028,0.00003729326,0.00009550426,0.00005079958,0.00003452502],"domain_scores_gemma":[0.9990832,0.0002971876,0.0004077967,0.00005019035,0.00006294524,0.00009859997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006789842,0.00004956221,0.9483364,0.00007988945,0.0001105995,0.01028209,0.0003975914,0.0002267989,0.03106344,0.0001116914,0.0001890122,0.008473998],"study_design_scores_gemma":[0.00002566743,0.0002056613,0.9600953,0.0000207487,0.00008997901,0.03202835,0.0001934102,0.0004155357,0.006377456,0.0001065168,0.000430761,0.00001058581],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992336,0.0001680128,0.0002460686,0.00002146327,0.000003182551,0.000005156193,0.00008808017,0.00000792129,0.0002265448],"genre_scores_gemma":[0.9994264,0.00007450551,0.000282357,0.00001304449,0.00000693113,0.000002595745,0.00009934774,0.000004711543,0.00009015726],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002729604,"threshold_uncertainty_score":0.009131432,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01187150807788435,"score_gpt":0.2637326404128491,"score_spread":0.2518611323349647,"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."}}