{"id":"W4206135571","doi":"10.1002/ajmg.a.62650","title":"The utility of <scp>DNA</scp> methylation signatures in directing genome sequencing workflow: Kabuki syndrome and <scp>CDK13</scp>‐related disorder","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":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; University of Calgary","funders":"Canadian Institutes of Health Research","keywords":"Kabuki syndrome; dNaM; Pathognomonic; Genetics; Genome; Exome sequencing; Hypotonia; DNA sequencing; Computational biology; Biology; DNA methylation; Medicine; Gene; Phenotype; Disease; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00327949,0.0006561473,0.0003501399,0.001147441,0.0006880715,0.001943335,0.0006627224,0.0009966904,0.001543652],"category_scores_gemma":[0.007583077,0.0004409266,0.0004956297,0.000474804,0.0004426039,0.0007214954,0.00138824,0.0008654332,0.00160853],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008757076,"about_ca_system_score_gemma":0.001595998,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002877348,"about_ca_topic_score_gemma":0.004452937,"domain_scores_codex":[0.9984189,0.0005361956,0.0001414764,0.000457368,0.0003152383,0.0001307568],"domain_scores_gemma":[0.9973201,0.001323215,0.0002789634,0.000359574,0.0004640679,0.0002541752],"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":[0.001899842,0.0001690689,0.07471909,0.0004796336,0.0001896778,0.005594964,0.003417757,0.02717002,0.47857,0.008567387,0.01299222,0.3862303],"study_design_scores_gemma":[0.0001269997,0.0004886519,0.04300144,0.0002809036,0.0001619073,0.005253488,0.001475628,0.2741247,0.5968764,0.02574872,0.05218965,0.0002714813],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.3457322,0.001313661,0.5878736,0.003987174,0.0002655538,0.0007977082,0.004327083,0.04019015,0.01551292],"genre_scores_gemma":[0.5027269,0.0004340023,0.4898188,0.000936221,0.00005098154,0.0002466465,0.002201479,0.001677717,0.001907206],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00327949,"threshold_uncertainty_score":0.01734382,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007410246098490598,"score_gpt":0.2426608324341045,"score_spread":0.2352505863356139,"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."}}