{"id":"W4396625917","doi":"10.1038/s41431-024-01576-0","title":"Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders","year":2024,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; National Center for Advancing Translational Sciences; National Institute of Mental Health; Foundation for Angelman Syndrome Therapeutics","keywords":"Epigenetics; Exome sequencing; Biology; Genetics; Chromatin; Neurodevelopmental disorder; Histone; Autism spectrum disorder; Gene; Epigenomics; Genomics; Chromatin remodeling; Autism; Computational biology; Bioinformatics; DNA methylation; Genome; Medicine; Phenotype; Gene expression; 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":[0.0001918831,0.0008962767,0.0003610422,0.00151589,0.0004401063,0.0004515956,0.000368319,0.001237636,0.001736322],"category_scores_gemma":[0.000865604,0.0002254009,0.0004258229,0.0007081209,0.0006422648,0.0001954569,0.000451007,0.0003806262,0.0003012961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002641409,"about_ca_system_score_gemma":0.0001902919,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000623955,"about_ca_topic_score_gemma":0.0008728427,"domain_scores_codex":[0.9997039,0.00004198492,0.00005118912,0.0001008244,0.0000748368,0.00002715185],"domain_scores_gemma":[0.9996031,0.0001324055,0.0001380764,0.00002524299,0.00002177969,0.00007942314],"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":[0.001385043,0.0001678473,0.1920442,0.0001934408,0.000281948,0.5500169,0.001099184,0.001547567,0.2340214,0.001313458,0.0008836372,0.0170453],"study_design_scores_gemma":[0.0001278774,0.0005203863,0.3785002,0.00006054572,0.0003182957,0.5708101,0.000347688,0.002376245,0.0415167,0.00124376,0.004115556,0.00006268165],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997617,0.0004286226,0.0008019513,0.0001082373,0.00002091017,0.00001803953,0.0002843529,0.00004970019,0.0006712626],"genre_scores_gemma":[0.9991622,0.00008455971,0.0003560575,0.00004998252,0.00002071518,0.000004679913,0.000119027,0.000009483826,0.0001933097],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001736322,"threshold_uncertainty_score":0.005808532,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01503607002777479,"score_gpt":0.241430675656032,"score_spread":0.2263946056282573,"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."}}