{"id":"W2048424315","doi":"10.1038/jhg.2015.26","title":"A novel mutation in EED associated with overgrowth","year":2015,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":99,"is_retracted":false,"has_abstract":false,"ca_institutions":"Child and Family Research Institute; Surrey Memorial Hospital; Canada's Michael Smith Genome Sciences Centre; BC Children's Hospital; University of British Columbia","funders":"Fundação para a Ciência e a Tecnologia; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Canadian Institutes of Health Research; Canada's Michael Smith Genome Sciences Centre; Child and Family Research Institute","keywords":"Genetics; Mutation; Phenotype; Gene silencing; Biology; Gene; EZH2; Epigenetics","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004255752,0.0000926304,0.0001351434,0.00009492232,0.00002372445,0.00002186628,0.0001094286,0.00009784789,0.000002581572],"category_scores_gemma":[0.0001352654,0.00007995827,0.00004231248,0.0001041166,0.00003340678,0.000004147116,0.00002428266,0.00009767371,6.253438e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003972361,"about_ca_system_score_gemma":0.0001374365,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005931455,"about_ca_topic_score_gemma":0.0001507351,"domain_scores_codex":[0.9991638,0.00004826834,0.000320887,0.0001012308,0.0002384333,0.0001273675],"domain_scores_gemma":[0.9991246,0.000009384306,0.0003168426,0.0001088942,0.0003490757,0.0000911341],"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":[0.0001365982,0.0002397168,0.03680914,0.00000477986,0.00006776446,0.0000218462,0.0003142224,0.006476398,0.95496,0.00003792486,0.0001525985,0.0007790155],"study_design_scores_gemma":[0.009759479,0.01031483,0.3099351,0.0001260305,0.0001137108,0.00008997301,0.0005018815,0.0005692833,0.6632666,0.002158188,0.002631549,0.000533397],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939261,0.001082843,0.004320859,0.00003255977,0.0000788024,0.00006256554,0.000002763576,0.000001723111,0.0004918005],"genre_scores_gemma":[0.9975635,0.00005359686,0.002056151,0.00003456825,0.0001558048,0.00000101381,0.0000237138,0.00001699011,0.00009462891],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2916934,"threshold_uncertainty_score":0.3260604,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02932070362660508,"score_gpt":0.2848349955446381,"score_spread":0.255514291918033,"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."}}