{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004402878,0.0006227511,0.0004748783,0.001183401,0.0003002111,0.0005981877,0.0003219717,0.0005753461,0.01425412],"category_scores_gemma":[0.0008477386,0.0001625481,0.0005301436,0.0006600316,0.0002118124,0.0002400816,0.000377623,0.000452678,0.004990652],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001484657,"about_ca_system_score_gemma":0.0001857007,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007927495,"about_ca_topic_score_gemma":0.001064285,"domain_scores_codex":[0.9996562,0.00005626487,0.00003032658,0.0001025373,0.0001095351,0.00004518824],"domain_scores_gemma":[0.9996818,0.0001144643,0.00004916293,0.00003648363,0.00005398919,0.00006398541],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001434988,0.0002407143,0.1146893,0.0003168668,0.0002562836,0.03475707,0.0003855259,0.0006891786,0.6108159,0.0009993975,0.02143051,0.2139843],"study_design_scores_gemma":[0.0002711405,0.001649378,0.4701734,0.0002458926,0.0004386446,0.2453495,0.0003779813,0.008318347,0.1500413,0.001741224,0.1212681,0.0001250912],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9423092,0.002210133,0.02269477,0.00107303,0.0002332064,0.0002597626,0.01345935,0.001856527,0.01590395],"genre_scores_gemma":[0.9703258,0.0007301029,0.01238089,0.0004363799,0.0001451894,0.00009355749,0.007528727,0.0003002789,0.008059095],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01425412,"threshold_uncertainty_score":0.04768479,"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."}}