{"id":"W4411492788","doi":"10.1093/genetics/iyaf120","title":"Functional analysis of human EED variants using <i>Drosophila</i>","year":2025,"lang":"en","type":"article","venue":"Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; National Institutes of Health; Simons Foundation Autism Research Initiative; BC Children's Hospital","keywords":"Biology; Genetics; Missense mutation; Germline; Epigenetics; Loss function; Drosophila melanogaster; Gene; Mutation; Phenotype","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":[0.000137049,0.0001013729,0.0001675796,0.0001817165,0.00007958418,0.00001215307,0.0001078356,0.0001255201,0.00002760634],"category_scores_gemma":[0.0000255485,0.0001104625,0.0001363037,0.0004985645,0.00005421455,0.000001039965,0.00008485895,0.00003992931,9.524455e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001038477,"about_ca_system_score_gemma":0.000064664,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001488654,"about_ca_topic_score_gemma":0.0000434052,"domain_scores_codex":[0.9992059,0.00004047334,0.0002627406,0.0002387427,0.0001185955,0.0001334853],"domain_scores_gemma":[0.9993814,0.000008914089,0.00009680553,0.0003332763,0.000144662,0.00003494125],"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":[0.00001111448,0.00004169326,0.02656322,0.000008720422,0.0004722758,2.36845e-7,0.000008783933,0.01343649,0.9586844,0.0002823047,0.00009571858,0.0003949984],"study_design_scores_gemma":[0.0003283491,0.00008152398,0.1621929,0.000006454686,0.0007381773,2.245208e-7,0.00001381716,0.003334971,0.8308915,0.0007933244,0.001482995,0.000135804],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9733095,0.001462225,0.0234699,0.00002762086,0.0001412002,0.0000726815,0.00002739301,0.000004523336,0.001485031],"genre_scores_gemma":[0.9973416,0.0001208282,0.001795896,0.00007631125,0.00008231962,0.000002652638,0.000209879,0.000009195112,0.0003613573],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1356297,"threshold_uncertainty_score":0.4504529,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.025048510516641,"score_gpt":0.2996395285421338,"score_spread":0.2745910180254928,"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."}}