{"id":"W4220777889","doi":"10.3390/genes13030470","title":"Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; University of British Columbia; Hospital for Sick Children; SickKids Foundation; University of Toronto; BC Children's Hospital; Autism Canada","funders":"Genome British Columbia","keywords":"Strabismus; Autism spectrum disorder; Epilepsy; Autism; Medicine; Genetics; Biology; Psychiatry; Ophthalmology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001607085,0.0003012157,0.0002985254,0.0003097554,0.0005181083,0.000105781,0.0003922886,0.0000444582,0.0003098133],"category_scores_gemma":[0.000008625249,0.0002591374,0.00003590502,0.0007745275,0.0002101134,0.0001282414,0.0004294174,0.0004387291,0.000008710634],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002248604,"about_ca_system_score_gemma":0.0002393766,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001722127,"about_ca_topic_score_gemma":0.003117482,"domain_scores_codex":[0.9968879,0.0003478228,0.0002734395,0.0008185584,0.0007310074,0.0009412672],"domain_scores_gemma":[0.9991723,0.00007460678,0.0001076513,0.0004545063,0.000004087503,0.0001868215],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004428008,0.01564713,0.6246682,0.0003436252,0.0001842424,0.06057815,0.0511032,0.01776334,0.08439567,0.09687793,0.0001659491,0.04384452],"study_design_scores_gemma":[0.01363584,0.01838361,0.879155,0.00008241403,0.0001486836,0.03360468,0.002860323,0.01166633,0.0118961,0.01183441,0.01358454,0.003148073],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934837,0.0002058815,0.0002367983,0.00446788,0.00005111386,0.0009353672,0.00009676898,0.000159998,0.000362536],"genre_scores_gemma":[0.9984807,0.00008378263,0.0005944644,0.0003452198,0.00001025045,0.0003436992,0.000007188311,0.00006984804,0.00006486198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2544867,"threshold_uncertainty_score":0.9999861,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01428389891060497,"score_gpt":0.2533331753113838,"score_spread":0.2390492764007788,"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."}}