{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004683395,0.0002800717,0.0003466427,0.00009656476,0.0002063315,0.0001463245,0.0001328176,0.0002831583,0.000006804617],"category_scores_gemma":[0.0005303115,0.0002656865,0.0001224254,0.0001547459,0.0001117361,0.00002184028,0.00009331213,0.0001156424,0.000003209861],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003440939,"about_ca_system_score_gemma":0.0001172445,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005720311,"about_ca_topic_score_gemma":0.0001275026,"domain_scores_codex":[0.9978138,0.0002127205,0.000455435,0.000847526,0.0002146782,0.0004557953],"domain_scores_gemma":[0.9987809,0.000258828,0.0000786301,0.000362186,0.0002333256,0.0002860973],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002639315,0.001201154,0.6034372,0.0003071302,0.0004096157,0.0001734852,0.001070719,0.003027378,0.2326036,0.00001513465,0.0003391469,0.1547761],"study_design_scores_gemma":[0.004154718,0.00592417,0.9480207,0.000225328,0.0005396705,0.00009977193,0.000621633,0.009553282,0.02760586,0.0008401037,0.001529898,0.0008848363],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9399251,0.002701165,0.05570179,0.0004299784,0.0002202758,0.0008079678,0.0001744361,0.0000328624,0.000006381548],"genre_scores_gemma":[0.9685504,0.001534634,0.02812621,0.0001742644,0.0002476535,0.0006836028,0.0004701615,0.00006539094,0.0001477175],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3445835,"threshold_uncertainty_score":0.9999796,"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."}}