{"id":"W4402900588","doi":"10.1002/ajmg.a.63864","title":"Diagnosis of <i>TET3</i>‐Related Beck–Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a <scp>DNA</scp> Methylation Signature","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; McMaster Children's Hospital; Western University; London Health Sciences Centre; McMaster University","funders":"Government of Canada; Ontario Genomics; Genome Canada","keywords":"Epigenetics; Genetics; DNA methylation; Phenotype; Biology; Mendelian inheritance; Gene","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":[0.0001826005,0.001026556,0.0003464707,0.001012255,0.0008237365,0.0004486738,0.0003380149,0.001158072,0.001717443],"category_scores_gemma":[0.0008009108,0.0003366632,0.0002862989,0.000339817,0.0007158336,0.0004258113,0.0005858166,0.0008267412,0.000295355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002607912,"about_ca_system_score_gemma":0.0003399891,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001876644,"about_ca_topic_score_gemma":0.002167252,"domain_scores_codex":[0.999755,0.00003234333,0.00002205615,0.00008018085,0.00004808344,0.0000624707],"domain_scores_gemma":[0.9997578,0.00006359017,0.00005086359,0.00001087638,0.00001434323,0.0001025206],"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":[0.0001169896,0.00007063539,0.08882751,0.00003805279,0.00002226715,0.8688204,0.0008329502,0.0002844029,0.03201094,0.0006810327,0.0006128625,0.00768201],"study_design_scores_gemma":[0.000009302938,0.0002121901,0.05726051,0.00002494208,0.00003998373,0.9340727,0.0003415853,0.001006135,0.005674523,0.0004105367,0.000916848,0.00003072874],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913198,0.0002771785,0.002120886,0.0005968584,0.00003582695,0.00007125338,0.0001237716,0.00009023838,0.005364203],"genre_scores_gemma":[0.9978823,0.0001381406,0.001319649,0.0001067738,0.00003335195,0.000007850815,0.00003769918,0.000008724961,0.0004655812],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001876644,"threshold_uncertainty_score":0.005745411,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01215407357725198,"score_gpt":0.2770009973208049,"score_spread":0.2648469237435529,"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."}}