{"id":"W4396750475","doi":"10.1210/clinem/dgae320","title":"Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes","year":2024,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Humboldt District Hospital","funders":"Consejo Nacional de Investigaciones Científicas y Técnicas","keywords":"Exome sequencing; Hypopituitarism; Genetics; Candidate gene; Gene; Exome; Biology; Bioinformatics; Medicine; Evolutionary biology; Computational biology; Mutation; Endocrinology","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":[0.0009582379,0.0006249225,0.0004638594,0.001358475,0.000321306,0.0005844067,0.0003336596,0.000825269,0.002086165],"category_scores_gemma":[0.002946357,0.000162504,0.0003658114,0.0013155,0.0003898487,0.0001612666,0.0004485441,0.0003102305,0.0005401503],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002603867,"about_ca_system_score_gemma":0.0002234971,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008486122,"about_ca_topic_score_gemma":0.001779287,"domain_scores_codex":[0.9990779,0.000142052,0.0000951403,0.0003248764,0.0002711908,0.00008874827],"domain_scores_gemma":[0.998577,0.0007225475,0.0003442152,0.0001490492,0.0001214649,0.00008570083],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009024715,0.00009910939,0.6965854,0.0007568059,0.0008005797,0.04341138,0.0006858468,0.001750413,0.1931928,0.0009011152,0.003808415,0.05710574],"study_design_scores_gemma":[0.0001586273,0.0002132724,0.8698992,0.0002531349,0.0005703925,0.076377,0.0003989061,0.005660179,0.02980148,0.001245699,0.01538728,0.00003474978],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899532,0.001895809,0.00390642,0.0002381526,0.0000390515,0.00003871695,0.002436869,0.00008209809,0.001409769],"genre_scores_gemma":[0.9916938,0.0008521721,0.002995414,0.0002058575,0.00003592814,0.00003551766,0.003673493,0.00004824038,0.0004595894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002086165,"threshold_uncertainty_score":0.006978929,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06816613915697796,"score_gpt":0.3448364386153842,"score_spread":0.2766702994584062,"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."}}