{"id":"W2898906372","doi":"10.1210/js.2018-00130","title":"Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing","year":2018,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Institutes of Health; Queensland University of Technology; Great Ormond Street Hospital Charity; National Institute for Health and Care Research; National Institute of General Medical Sciences; Medical Research Council; Wellcome; Barts Charity; Queen Mary University of London; Wellcome Trust","keywords":"Missense mutation; Biology; Etiology; Cohort; Genetics; Adrenal insufficiency; Allele; Loss of heterozygosity; Cholesterol side-chain cleavage enzyme; Compound heterozygosity; Medicine; Internal medicine; Mutation; 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":[0.0004489578,0.0006262652,0.0004263769,0.0006086149,0.0003467445,0.0003978915,0.0003062664,0.000612582,0.002162089],"category_scores_gemma":[0.00159024,0.0001973756,0.0005225624,0.0005902507,0.000477508,0.0001622671,0.0003250188,0.0004703135,0.0006796431],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002027577,"about_ca_system_score_gemma":0.0001658552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005505793,"about_ca_topic_score_gemma":0.0008133383,"domain_scores_codex":[0.9993595,0.0001303152,0.0001094129,0.0001860253,0.0001551664,0.0000595857],"domain_scores_gemma":[0.9987106,0.0004455633,0.0005279496,0.0001301021,0.00007224433,0.0001135759],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001847658,0.0002052617,0.4565873,0.0003952528,0.0009690005,0.07255547,0.0006434343,0.001507472,0.4288196,0.001576568,0.001608338,0.03328463],"study_design_scores_gemma":[0.0001868367,0.000949621,0.6526037,0.000122916,0.0009715317,0.2136089,0.0004487048,0.005447048,0.1123347,0.002068547,0.01116958,0.00008787488],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936689,0.001244717,0.003473941,0.0001906071,0.00007852624,0.00001991262,0.0004180598,0.0001188411,0.0007866348],"genre_scores_gemma":[0.9982766,0.0001871686,0.000927478,0.00009664588,0.00004234343,0.00000563449,0.0002162486,0.0000230955,0.0002248475],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002162089,"threshold_uncertainty_score":0.007232964,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01367526803191092,"score_gpt":0.2712888396489587,"score_spread":0.2576135716170478,"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."}}