{"id":"W4298108923","doi":"10.1101/2022.09.29.22279724","title":"Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"Ministerstvo Zdravotnictví Ceské Republiky; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; European Commission; National Science Foundation; Children's Mercy Hospital; Ministero della Salute; Univerzita Karlova v Praze; British Mass Spectrometry Society; University of Alabama; Genomic Health; Fondazione CRT","keywords":"Biology; Genetics; Phenotype; Copy-number variation; Gene; Allele; 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":[0.0003184513,0.0006470543,0.0004088238,0.00100112,0.0008072543,0.0004118459,0.0002730172,0.0005687179,0.002415803],"category_scores_gemma":[0.0007984396,0.0002226803,0.0006022987,0.0005927382,0.0003108297,0.0001297722,0.0005556698,0.0004680551,0.0003630117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002043362,"about_ca_system_score_gemma":0.0001288192,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002578497,"about_ca_topic_score_gemma":0.002488098,"domain_scores_codex":[0.9995928,0.00004064988,0.00004293065,0.0001985834,0.0000652815,0.00005974723],"domain_scores_gemma":[0.9997301,0.00007450129,0.00006158141,0.00003527959,0.00002505563,0.00007356054],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00150728,0.0003147532,0.8017706,0.0000701137,0.0003719808,0.02269283,0.001317679,0.000920003,0.1497576,0.000270829,0.0008915934,0.02011488],"study_design_scores_gemma":[0.00006552837,0.0007514452,0.9622573,0.00002264628,0.0001619659,0.02066235,0.0003974315,0.001722844,0.01106067,0.0001358396,0.002722404,0.00003952848],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987653,0.0000334267,0.0004992485,0.00001364512,0.000005879049,0.00001709563,0.0004868324,0.00001944349,0.0001591544],"genre_scores_gemma":[0.9973589,0.00003026586,0.001073143,0.00003701933,0.000007945643,0.0000203333,0.001061765,0.00003228964,0.000378286],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002578497,"threshold_uncertainty_score":0.008081675,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01426329470904235,"score_gpt":0.2293492829038097,"score_spread":0.2150859881947673,"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."}}