{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001619485,0.001456253,0.0006727753,0.002022961,0.0007382893,0.0006549054,0.0009247917,0.00251733,0.003414417],"category_scores_gemma":[0.001778203,0.0003498046,0.0009094242,0.0009732627,0.001007005,0.0003310185,0.001150086,0.001112159,0.0004924769],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003682447,"about_ca_system_score_gemma":0.0002940973,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001160711,"about_ca_topic_score_gemma":0.0009450638,"domain_scores_codex":[0.999697,0.00002622235,0.00004413711,0.00008115921,0.00007377983,0.00007779976],"domain_scores_gemma":[0.9986926,0.0005638612,0.0002953451,0.00006200975,0.000073494,0.0003127249],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003778748,0.00008580605,0.0169753,0.00006148104,0.00008442534,0.8994852,0.0002298454,0.0003273791,0.07640754,0.001031401,0.0004234581,0.004510294],"study_design_scores_gemma":[0.00009632526,0.0001912475,0.05483197,0.0000557449,0.0001589776,0.9089035,0.0002487598,0.001417766,0.02841693,0.0005621527,0.005063322,0.00005334318],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910169,0.000878351,0.002583346,0.0006971726,0.000258882,0.00003484001,0.000603655,0.0001202664,0.003806617],"genre_scores_gemma":[0.9960336,0.0002263856,0.001509242,0.0001564218,0.0001117792,0.00001139499,0.0002028647,0.00003697043,0.001711468],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003414417,"threshold_uncertainty_score":0.0114224,"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."}}