{"id":"W4380881042","doi":"10.1101/2023.06.13.23290941","title":"Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Sinai Health System; University Health Network; University of Toronto; St. Michael's Hospital","funders":"","keywords":"Neurodevelopmental disorder; Loss function; Medicine; Genetics; Biology; Phenotype; Psychiatry; Autism; Gene","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":[0.0002306318,0.0007577903,0.0004172989,0.0009362047,0.0005338211,0.0004311171,0.0002784437,0.0002891338,0.002946147],"category_scores_gemma":[0.0009876536,0.0001483915,0.0003501796,0.0007079617,0.0005255711,0.0001713865,0.0006013781,0.0002578534,0.0003806297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002700023,"about_ca_system_score_gemma":0.0002228959,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001945473,"about_ca_topic_score_gemma":0.001754484,"domain_scores_codex":[0.9996388,0.00004145582,0.00006371189,0.0001417452,0.00005672617,0.00005749416],"domain_scores_gemma":[0.9996337,0.00009527823,0.0001301805,0.00003451819,0.000037694,0.00006876975],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005892402,0.00009662184,0.8744163,0.0001278547,0.0003057524,0.04256536,0.0003781037,0.0003564528,0.06562376,0.0003196574,0.001092057,0.0141288],"study_design_scores_gemma":[0.00004307947,0.0002878292,0.8417027,0.00005637682,0.000263371,0.1321685,0.0005176174,0.0008953671,0.02040355,0.0003750711,0.003263084,0.00002330986],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976562,0.0002531411,0.0007823283,0.00003595705,0.00000584943,0.00002057194,0.0005605015,0.00003586116,0.0006495467],"genre_scores_gemma":[0.9990108,0.00008369963,0.0004006028,0.00002915669,0.000007267336,0.000005023976,0.00030845,0.000009806223,0.0001451467],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002946147,"threshold_uncertainty_score":0.009855807,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01980498113483652,"score_gpt":0.2479583079214375,"score_spread":0.228153326786601,"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."}}