{"id":"W4390120745","doi":"10.1093/brain/awad405","title":"A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre; Queen's University","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; Center for Mendelian Genomics, University of Washington; Georgia Clinical and Translational Science Alliance; National Heart, Lung, and Blood Institute; Rudi Schulte Research Institute; University of Washington; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Children's Discovery Institute; National Institutes of Health; Yale University","keywords":"Exome sequencing; Hydrocephalus; Ventriculomegaly; Exome; Biology; Genetics; Pathology; Medicine; Bioinformatics; Phenotype; Gene; Fetus; Psychiatry","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":[0.0001092808,0.0002690232,0.0002510487,0.0005854875,0.0002745625,0.0002293938,0.0001316494,0.0003515515,0.002435297],"category_scores_gemma":[0.0002965076,0.0001146503,0.0002322898,0.0003296857,0.000305133,0.0001179859,0.0002683848,0.0002823572,0.0002277537],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001541295,"about_ca_system_score_gemma":0.0001345887,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007758107,"about_ca_topic_score_gemma":0.001188826,"domain_scores_codex":[0.9999126,0.000007565517,0.000006536728,0.00004347033,0.00001878205,0.00001092114],"domain_scores_gemma":[0.9998907,0.00002471551,0.0000414175,0.00001253521,0.000009212385,0.00002150483],"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":[0.001209678,0.00005653089,0.05279045,0.000265623,0.0001690049,0.01974551,0.0003416061,0.0004821589,0.9031769,0.0007532282,0.001125939,0.01988336],"study_design_scores_gemma":[0.0001079781,0.0004735722,0.734762,0.0001320161,0.000314691,0.09579597,0.0002905836,0.002613189,0.1465044,0.001164065,0.01780214,0.00003934585],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945738,0.001216629,0.001740066,0.0001342631,0.00002387696,0.00002338682,0.001158245,0.00006513062,0.001064729],"genre_scores_gemma":[0.9961674,0.0007333126,0.001330652,0.0001035593,0.00001787749,0.00002034883,0.0007791832,0.00002090531,0.0008265906],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002435297,"threshold_uncertainty_score":0.008146882,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01736706003431513,"score_gpt":0.2886178721666912,"score_spread":0.2712508121323761,"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."}}