{"id":"W2785888137","doi":"10.1016/j.ajhg.2018.01.006","title":"OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":116,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; McMaster University; Population Health Research Institute; SickKids Foundation; Hospital for Sick Children","funders":"Natural Sciences and Engineering Research Council of Canada; Ontario Institute for Cancer Research; Canadian Institutes of Health Research; Autism Speaks","keywords":"Microdeletion syndrome; Copy-number variation; Intellectual disability; Neurodevelopmental disorder; Exome sequencing; Autism spectrum disorder; Biology; Dendritic spine; Phenotype; Genetics; Transcriptome; Epilepsy; Autism; Neuroscience; Gene; Medicine; Genome; Psychiatry; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000354314,0.000101316,0.000132442,0.00004390011,0.0001628455,0.00003604691,0.0004441142,0.00002088707,0.00001931228],"category_scores_gemma":[0.0000110206,0.00006176026,0.00006210829,0.0001102079,0.0003784283,0.00000337603,0.00006550052,0.0001003658,0.000005922559],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001376984,"about_ca_system_score_gemma":0.00004534044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001606816,"about_ca_topic_score_gemma":0.00002976757,"domain_scores_codex":[0.9991536,0.0001547182,0.000296327,0.00009934832,0.0001357683,0.0001602716],"domain_scores_gemma":[0.999339,0.00001377265,0.0002926622,0.0002304729,0.00009896196,0.00002516013],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000232445,0.0002277538,0.02156653,0.0000118672,0.0002032476,0.00003322516,0.006818377,0.000367932,0.9581119,0.0004314094,0.002981261,0.009014025],"study_design_scores_gemma":[0.000983222,0.007226493,0.8439994,0.00004397281,0.0001126484,0.003355551,0.008426741,0.00003709346,0.1211675,0.002178527,0.01200124,0.0004676657],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988694,0.0003241469,0.0000861127,0.0003944945,0.00008491907,0.00006261499,0.000003190044,0.00000160705,0.0001735704],"genre_scores_gemma":[0.9983811,0.0001062012,0.0005688623,0.000519834,0.0002973278,0.000001874307,0.000005278241,0.0000122083,0.0001073328],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8369445,"threshold_uncertainty_score":0.251851,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008536115735348293,"score_gpt":0.2353026764887441,"score_spread":0.2267665607533958,"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."}}