{"id":"W4308132893","doi":"10.1210/jendso/bvac150.286","title":"RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.","year":2022,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council","keywords":"Sanger sequencing; Exome sequencing; Primary Adrenal Insufficiency; Genetic testing; Adrenal insufficiency; Biology; Genetics; Candidate gene; Exome; Whole genome sequencing; Gene; DNA sequencing; Bioinformatics; Medicine; Mutation; Genome","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000583495,0.0002947537,0.0006257806,0.0001006281,0.0006619552,0.00004091672,0.0004983158,0.00004489837,0.00009051553],"category_scores_gemma":[0.00009134593,0.0001878099,0.0007979069,0.0005662988,0.0001643759,0.000119676,0.0003104359,0.0007179703,0.000001118944],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000516195,"about_ca_system_score_gemma":0.0008381573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003521014,"about_ca_topic_score_gemma":0.000003493192,"domain_scores_codex":[0.9973173,0.0001283901,0.0006625458,0.0002962595,0.001053347,0.0005421224],"domain_scores_gemma":[0.9983247,0.0001489442,0.000684729,0.0003917323,0.0002230068,0.0002268912],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0075982,0.01412835,0.3617405,0.002572849,0.008036386,0.0006982912,0.04171158,0.06603365,0.04373324,0.0003271191,0.4303592,0.02306063],"study_design_scores_gemma":[0.089623,0.02890499,0.4331888,0.0009361381,0.008119362,0.04610325,0.03350318,0.008263983,0.005275674,0.00118072,0.3416034,0.003297518],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.988928,0.003978536,0.001942849,0.003528849,0.0002143658,0.0009455794,0.0001412492,0.00002745745,0.0002931801],"genre_scores_gemma":[0.9695991,0.0004830325,0.02564146,0.002808604,0.0003484207,0.0002225609,0.00005584254,0.00007243686,0.0007685174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0887558,"threshold_uncertainty_score":0.7658667,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02001437115634719,"score_gpt":0.2488277490013028,"score_spread":0.2288133778449556,"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."}}