{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000203972,0.001583598,0.0006353069,0.001308143,0.00128688,0.0005921244,0.0006312856,0.002435159,0.002247453],"category_scores_gemma":[0.001433918,0.000488643,0.0006261804,0.00054496,0.001016989,0.00043859,0.000874854,0.0009604256,0.0004169462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006020542,"about_ca_system_score_gemma":0.0005042218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002688057,"about_ca_topic_score_gemma":0.002475558,"domain_scores_codex":[0.9996603,0.00002775659,0.00003584872,0.0001483176,0.00005930239,0.00006848171],"domain_scores_gemma":[0.9994513,0.0001797921,0.0001099277,0.00002312782,0.00003969949,0.0001961144],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009274357,0.00006900344,0.01157422,0.00002411862,0.0000163291,0.9756192,0.0004199116,0.0001185038,0.01018875,0.000250273,0.0002437479,0.001383314],"study_design_scores_gemma":[0.00003085514,0.0001730106,0.02191166,0.00001335179,0.00002734907,0.9747193,0.0001261351,0.0007176249,0.001610669,0.0002005139,0.0004519993,0.00001738186],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967278,0.0002135139,0.0008800072,0.0004990867,0.00004391744,0.00003752007,0.0002080898,0.00006299347,0.001326965],"genre_scores_gemma":[0.9984825,0.00008010623,0.0006938764,0.0001189039,0.00004490986,0.00001131108,0.00007252651,0.00001624016,0.0004796584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002688057,"threshold_uncertainty_score":0.00751847,"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."}}