{"id":"W4313891629","doi":"10.3390/genes14010165","title":"What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis","year":2023,"lang":"en","type":"article","venue":"Genes","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Exome sequencing; Phenotype; Genetics; Kabuki syndrome; Genetic heterogeneity; Genetic testing; Epigenetics; Phenocopy; Biology; Copy-number variation; Gene; Medicine; Computational biology; Bioinformatics; Genome","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":[0.002173527,0.0007360938,0.001749753,0.0009360313,0.001144585,0.002662543,0.001340688,0.004065578,0.00293123],"category_scores_gemma":[0.01710469,0.0003221922,0.0008684736,0.0005813201,0.001802205,0.005280798,0.001133139,0.00389111,0.001087585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008349797,"about_ca_system_score_gemma":0.001353587,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003860931,"about_ca_topic_score_gemma":0.005398171,"domain_scores_codex":[0.9985797,0.0004637668,0.000231891,0.0003253079,0.0001826836,0.0002166347],"domain_scores_gemma":[0.9951649,0.002380318,0.0004035532,0.0002335825,0.001101484,0.0007161162],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.000816233,0.0003846381,0.1548736,0.00639931,0.0006897987,0.1369838,0.01002413,0.0007427086,0.003045192,0.004325334,0.08496303,0.5967522],"study_design_scores_gemma":[0.0002574928,0.0009730381,0.100049,0.01818838,0.001087691,0.5868519,0.04132299,0.001877649,0.001723378,0.04505182,0.2019546,0.0006620203],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1659412,0.3901305,0.00744544,0.4070983,0.01632661,0.0001452632,0.0008207181,0.0003817677,0.0117102],"genre_scores_gemma":[0.5069475,0.2952871,0.00861767,0.1492953,0.03334203,0.0001383464,0.001009731,0.0001491461,0.005213215],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.004065578,"threshold_uncertainty_score":0.01149487,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08607022825312503,"score_gpt":0.3231020442246025,"score_spread":0.2370318159714775,"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."}}