{"id":"W4403153303","doi":"10.1210/jendso/bvae163.1745","title":"12330 Rare Variants in SEMA3A in Individuals with Constitutional Delay of Puberty (CDP)","year":2024,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Sexual Differentiation and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Medicine; Internal medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000169582,0.00007390801,0.0001203735,0.00003427735,0.00001903014,0.00001504461,0.0001419653,0.00004067494,0.00004161907],"category_scores_gemma":[0.00005135189,0.00004473997,0.0001316052,0.0001618539,0.0001153238,0.00000922443,0.00005411164,0.0001619791,5.941196e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002045786,"about_ca_system_score_gemma":0.0002162738,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009268192,"about_ca_topic_score_gemma":0.00002414295,"domain_scores_codex":[0.9993277,0.00004895839,0.00025469,0.00009029725,0.0001701804,0.0001081486],"domain_scores_gemma":[0.9997069,0.0000214676,0.0001004648,0.00008965591,0.00005454405,0.00002701181],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001989962,0.0007248071,0.8442495,0.0002514602,0.0009922826,0.00005923724,0.001829422,0.004010845,0.08888709,0.005862216,0.05088098,0.002053127],"study_design_scores_gemma":[0.01108894,0.0007753731,0.8391843,0.0008989032,0.0002073706,0.001395456,0.004445498,0.00100635,0.05994608,0.003042409,0.07734835,0.0006609207],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996125,0.001234304,0.0008074352,0.0009395711,0.0002325914,0.00008001152,0.00002464982,0.000001920738,0.0005544916],"genre_scores_gemma":[0.9988889,0.0001161849,0.0004627195,0.0002761669,0.00006086609,0.000001822496,0.00001304357,0.00000502524,0.0001752739],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.028941,"threshold_uncertainty_score":0.1824443,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00876410391578623,"score_gpt":0.2593644090530781,"score_spread":0.2506003051372919,"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."}}