{"id":"W4206787733","doi":"10.1002/ajmg.a.62652","title":"Near complete deletion of <scp><i>KMT2D</i></scp> in a college student","year":2022,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"National Institute of General Medical Sciences","keywords":"Kabuki syndrome; Exome sequencing; Nonsense; Exome; Intellectual disability; DNA sequencing; Mutation; Medical genetics","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":[0.00007149854,0.0005627984,0.0003307283,0.0009768825,0.0007855727,0.0004445407,0.0003958759,0.0009291021,0.003016912],"category_scores_gemma":[0.00075493,0.0001965745,0.0003059399,0.0004868843,0.0004747923,0.0002476769,0.0006096166,0.0006669959,0.0006516249],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002855465,"about_ca_system_score_gemma":0.0003174023,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003571491,"about_ca_topic_score_gemma":0.003847155,"domain_scores_codex":[0.9998517,0.00001171436,0.00001241503,0.00005470308,0.00003444636,0.00003500803],"domain_scores_gemma":[0.9996098,0.0000777369,0.00007927474,0.0000180904,0.00004279101,0.0001724509],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002037326,0.0002921996,0.1248705,0.00007403735,0.00003309128,0.7982767,0.00242229,0.000376025,0.04783401,0.0008285632,0.002395307,0.02239356],"study_design_scores_gemma":[0.00001462958,0.0003445822,0.1130528,0.00002762846,0.00003614337,0.8706341,0.0008082349,0.0009551885,0.0106482,0.0003188929,0.003121755,0.000037871],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964994,0.0001411188,0.0007448566,0.0004187799,0.00003165731,0.00001775296,0.0002206516,0.00005129074,0.001874492],"genre_scores_gemma":[0.9978334,0.00008993376,0.0004444705,0.0001342597,0.00002739382,0.00000382745,0.0000881082,0.00001597387,0.001362742],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003571491,"threshold_uncertainty_score":0.01009262,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009628726821009315,"score_gpt":0.2682392177400627,"score_spread":0.2586104909190534,"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."}}