{"id":"W4410774335","doi":"10.1016/j.ejmg.2025.105020","title":"Variable expressivity of a transmitted pathogenic KAT6B variant","year":2025,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Expressivity; Genetics; Computer science; Biology","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":[0.001311502,0.0001134665,0.0002098218,0.00006413143,0.00004526262,0.00001523115,0.0005174488,0.00008317061,0.0001479674],"category_scores_gemma":[0.000243974,0.00009542558,0.0001346991,0.0001211171,0.00009969832,0.000002683882,0.000126813,0.0001791695,0.000002455401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000736154,"about_ca_system_score_gemma":0.0004454661,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002537579,"about_ca_topic_score_gemma":0.000001200327,"domain_scores_codex":[0.9983208,0.000388057,0.0006355334,0.0001317106,0.0003601908,0.0001636787],"domain_scores_gemma":[0.999147,0.00002796677,0.0002436211,0.0002411665,0.000201752,0.0001385112],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004787425,0.000990952,0.004043244,0.0003382711,0.001074091,0.0005057472,0.0007854195,0.001136955,0.9163426,0.006691585,0.01219929,0.05541307],"study_design_scores_gemma":[0.01069869,0.003328821,0.03889862,0.001122069,0.0007360009,0.001524846,0.001037792,0.0009243758,0.3033461,0.002889519,0.6346118,0.0008813604],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8416037,0.003813002,0.1469454,0.000570169,0.0005207512,0.00007547342,0.0000268921,0.000004191821,0.006440387],"genre_scores_gemma":[0.989904,0.0007550928,0.008249693,0.000317591,0.0002874591,6.421578e-7,0.000008293251,0.00001467254,0.0004624821],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6224125,"threshold_uncertainty_score":0.3891342,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006853284718761054,"score_gpt":0.2276343947412819,"score_spread":0.2207811100225208,"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."}}