{"id":"W4388971561","doi":"10.3390/genes14122122","title":"Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant","year":2023,"lang":"en","type":"article","venue":"Genes","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Autism Canada; University of Toronto; BC Children's Hospital; University of British Columbia","funders":"Genome British Columbia","keywords":"Autism spectrum disorder; Genetics; Compound heterozygosity; Heterozygote advantage; Autism; Biology; Medicine; Mutation; Genotype; Psychiatry; Gene","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":[0.00005020844,0.0001535433,0.000110466,0.00007232085,0.0000593417,0.00002004715,0.0001275291,0.00006401883,0.00001438062],"category_scores_gemma":[0.000005717268,0.0001388936,0.00003621697,0.0002092558,0.0000418941,0.000001579724,0.0001371876,0.00004741262,0.00001689671],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001222911,"about_ca_system_score_gemma":0.00006786706,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007599204,"about_ca_topic_score_gemma":0.00087122,"domain_scores_codex":[0.9990195,0.00002025176,0.0001487633,0.000333878,0.0001093013,0.0003682975],"domain_scores_gemma":[0.9996828,0.00000425504,0.00003496374,0.0002060895,0.000008581374,0.00006332257],"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":[0.0001052957,0.0002163697,0.0122046,0.00002397014,0.00004591042,0.0001793864,0.0003123022,0.004000912,0.9777362,0.0001366524,0.0003469044,0.004691451],"study_design_scores_gemma":[0.003541291,0.00139503,0.8436321,0.00003971605,0.00002132173,0.0006992553,0.0005827384,0.001918628,0.06873881,0.0007010457,0.07773411,0.0009959682],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969932,0.0001968826,0.00149523,0.0007333106,0.00007407516,0.0001924956,0.00003507343,0.00002207553,0.0002576534],"genre_scores_gemma":[0.9978742,0.0002780497,0.001038692,0.0004201145,0.000011329,0.00004915598,0.0001272525,0.00003099022,0.0001702258],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9089974,"threshold_uncertainty_score":0.5663918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01174956857997522,"score_gpt":0.2200308866985964,"score_spread":0.2082813181186212,"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."}}