{"id":"W4366982119","doi":"10.1136/jmg-2022-108803","title":"<i>ARF1</i>-related disorder: phenotypic and molecular spectrum","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of Alberta Hospital; Alberta Hospital Edmonton; Royal University Hospital","funders":"Sorbonne Université","keywords":"Phenotype; Genetics; Biology; Computational biology; 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":[0.0002634615,0.0009299837,0.0004771288,0.001143622,0.0004569728,0.0002821365,0.0003453872,0.00050214,0.002279652],"category_scores_gemma":[0.0008265379,0.0001046325,0.000281739,0.0006485426,0.0005735218,0.0002214892,0.0005573101,0.0003136688,0.0003749443],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001491361,"about_ca_system_score_gemma":0.0001855112,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007803281,"about_ca_topic_score_gemma":0.0005370063,"domain_scores_codex":[0.9996893,0.00003528764,0.00005109995,0.0001257749,0.00004140039,0.00005718356],"domain_scores_gemma":[0.9996166,0.0001143807,0.0001345746,0.00002912786,0.00002924086,0.00007615211],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006998513,0.0001367554,0.7956305,0.0001657914,0.0001392901,0.09446615,0.0007363327,0.000574645,0.0764799,0.000713155,0.0008103353,0.02944734],"study_design_scores_gemma":[0.00002461124,0.0003739001,0.6261527,0.00005491032,0.0001216452,0.3620189,0.0003805902,0.0004702325,0.007196862,0.0006724065,0.002511253,0.00002197139],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970683,0.0003945674,0.0006651027,0.00005952937,0.00000579559,0.00001854522,0.0004407435,0.00002865368,0.001318635],"genre_scores_gemma":[0.9986293,0.0002164273,0.0005022479,0.00004928711,0.00002091464,0.00001193976,0.0003761247,0.0000113103,0.0001824811],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002279652,"threshold_uncertainty_score":0.007626176,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004393419231511718,"score_gpt":0.2401382262243584,"score_spread":0.2357448069928467,"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."}}