{"id":"W4406298151","doi":"10.1186/s13148-024-01807-7","title":"Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature","year":2025,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Missense mutation; Genetics; Human genetics; Biology; Disease; Inheritance (genetic algorithm); Intellectual disability; Bioinformatics; Mutation; Medicine; Gene; Pathology","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":[0.0002709277,0.00010059,0.0002347949,0.00002862962,0.00002182528,0.000006102412,0.0002692984,0.0002050618,0.00000299214],"category_scores_gemma":[0.0004415157,0.0000732184,0.00007348205,0.0001764538,0.0002244745,0.000005424949,0.00007730025,0.0001021725,1.788727e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005367848,"about_ca_system_score_gemma":0.0002929237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002657029,"about_ca_topic_score_gemma":0.00005375087,"domain_scores_codex":[0.9988121,0.0001796836,0.0005628222,0.0002370266,0.0001058301,0.000102573],"domain_scores_gemma":[0.9988234,0.0001062993,0.0003545168,0.0004385246,0.0002474782,0.000029769],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.004235601,0.006771071,0.1470263,0.00115128,0.0009641178,0.0002083419,0.002345934,0.00753582,0.728955,0.01765014,0.0002063405,0.08295001],"study_design_scores_gemma":[0.002400263,0.00294775,0.1837588,0.0002899878,0.0002059013,0.00001728872,0.0002704491,0.001616301,0.7927669,0.01484775,0.0005791919,0.000299444],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934224,0.001084626,0.004799331,0.0001719778,0.00009568527,0.0002289474,0.00003710384,0.000002112099,0.000157761],"genre_scores_gemma":[0.9947397,0.0009342235,0.004055348,0.0001378131,0.00003020911,0.00001013845,0.00004816974,0.000008753251,0.00003571158],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08265057,"threshold_uncertainty_score":0.298576,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02160829386126044,"score_gpt":0.3348098244483351,"score_spread":0.3132015305870746,"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."}}