{"id":"W4313368991","doi":"10.1016/j.ajhg.2022.12.007","title":"Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype","year":2022,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Human Genome Research Institute; Ministerstvo Zdravotnictví Ceské Republiky; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; European Commission; National Institute of Nursing Research; University of Alabama at Birmingham; National Institute of Mental Health; Ministero della Salute; Univerzita Karlova v Praze; British Mass Spectrometry Society; Ministero dell’Istruzione, dell’Università e della Ricerca; Genomic Health; Fondazione CRT; Children's Mercy Hospital; National Science Foundation","keywords":"Biology; Genetics; Phenotype; Copy-number variation; Gene; Missense mutation; Genome","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":[0.0002695771,0.001807496,0.0004574977,0.001603307,0.001189873,0.0004741799,0.0006580107,0.001021314,0.003284728],"category_scores_gemma":[0.001450296,0.0003945335,0.0005407368,0.001001378,0.0008857572,0.00021382,0.000634672,0.0005599164,0.0003766698],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003759871,"about_ca_system_score_gemma":0.0003005851,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006138828,"about_ca_topic_score_gemma":0.00404976,"domain_scores_codex":[0.9994571,0.00007209054,0.00007269921,0.0001990955,0.0001171029,0.00008200658],"domain_scores_gemma":[0.9995646,0.0001404249,0.0001327079,0.00002787436,0.0000470285,0.00008733951],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004592002,0.0006435733,0.6204346,0.0001674547,0.0005441708,0.2345255,0.003459331,0.001781385,0.1145026,0.00153838,0.001294723,0.01651624],"study_design_scores_gemma":[0.0003224067,0.001506265,0.8250596,0.0001005877,0.0008033804,0.1466367,0.001802581,0.002275304,0.01649878,0.001301594,0.003565954,0.0001268361],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985604,0.0001475526,0.0003466018,0.00005875307,0.0000190307,0.00001756665,0.0002640125,0.00001424224,0.0005718807],"genre_scores_gemma":[0.9990695,0.00006727947,0.0002553749,0.00003745085,0.00001113114,0.00000754059,0.0001210688,0.00001134359,0.0004193054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006138828,"threshold_uncertainty_score":0.0122062,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01089398693693418,"score_gpt":0.2304705376136232,"score_spread":0.219576550676689,"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."}}