{"id":"W4390739983","doi":"10.1101/2024.01.10.24300997","title":"EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROME","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"Agencia Estatal de Investigación; Instituto de Salud Carlos III","keywords":"Haploinsufficiency; Epigenetics; Histone methyltransferase; Loss function; Biology; Phenotype; Genetics; Methylation; Histone; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.00008960566,0.0005828286,0.0002718963,0.0005259797,0.0002305287,0.000239264,0.0001916331,0.0009700657,0.002841092],"category_scores_gemma":[0.0002276627,0.0001347825,0.0002691882,0.0002775024,0.0003478397,0.0001293669,0.0003917748,0.0006091819,0.0008987208],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001810376,"about_ca_system_score_gemma":0.0001194609,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004595479,"about_ca_topic_score_gemma":0.0003859718,"domain_scores_codex":[0.9998745,0.00001538751,0.00001453368,0.00003080668,0.00004349998,0.00002127915],"domain_scores_gemma":[0.9998339,0.00005842416,0.00004044088,0.00001166012,0.000008731277,0.00004682834],"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":[0.0005684137,0.0001151268,0.02500337,0.0001565914,0.000145148,0.190906,0.0003354981,0.0008663287,0.7635557,0.001512604,0.003146201,0.01368896],"study_design_scores_gemma":[0.0001321765,0.0003189774,0.09368961,0.00004735419,0.0001753873,0.3992842,0.0002899086,0.003254118,0.4815702,0.001389371,0.01980955,0.00003906589],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917306,0.0007421512,0.003178728,0.0005669502,0.00008555906,0.00002083845,0.00105531,0.0002330245,0.002386834],"genre_scores_gemma":[0.994382,0.0004086841,0.00163343,0.0001706727,0.00005031886,0.000008482858,0.0005734504,0.00006612498,0.002706961],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002841092,"threshold_uncertainty_score":0.009504378,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01729590589447325,"score_gpt":0.2561423526144347,"score_spread":0.2388464467199614,"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."}}