{"id":"W2918108683","doi":"10.1002/ajmg.a.61066","title":"<i>EED</i> and <i>EZH2</i> constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Cancer Research; Child Growth Foundation; Royal Marsden NHS Foundation Trust; Wellcome Trust","keywords":"Phenotype; Contrast (vision); Genetics; Biology; Physics; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002429135,0.000281184,0.0001812227,0.0004016255,0.0003142405,0.0002423606,0.0001320678,0.0001923822,0.0008000424],"category_scores_gemma":[0.0006282087,0.0001176177,0.0001878012,0.0002433043,0.0003667781,0.000158805,0.0003553688,0.000247713,0.00009985753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001893312,"about_ca_system_score_gemma":0.0001921033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003345183,"about_ca_topic_score_gemma":0.002247591,"domain_scores_codex":[0.9997719,0.0000342022,0.00002821893,0.00009068833,0.0000369423,0.00003806975],"domain_scores_gemma":[0.9997434,0.00007905414,0.00004180754,0.00004567895,0.00002432947,0.00006567515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001872814,0.0007558249,0.6800116,0.0000756991,0.000185273,0.04353985,0.003783391,0.0002863358,0.2367157,0.0009549903,0.000413485,0.03140487],"study_design_scores_gemma":[0.0001527106,0.001590143,0.8668203,0.00001892949,0.000143787,0.1074288,0.0009090207,0.0004693598,0.01807854,0.0001767396,0.004187925,0.00002386391],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994544,0.00004673687,0.000144739,0.00000665555,0.000001262731,0.00000653448,0.00002258533,0.000003105289,0.0003138919],"genre_scores_gemma":[0.9994779,0.00004492266,0.0002401964,0.0000147662,0.000002768129,0.000005125504,0.00004740251,0.000002852963,0.0001641113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003345183,"threshold_uncertainty_score":0.006651461,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004480799464922193,"score_gpt":0.2373826224490824,"score_spread":0.2329018229841602,"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."}}