{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003514351,0.0001083385,0.0001572467,0.00006856814,0.00004204051,0.000020462,0.0002507851,0.0001791139,0.00005272486],"category_scores_gemma":[0.0001791482,0.00008920186,0.0001062052,0.0001269391,0.00009876437,0.000001420847,0.0001533922,0.0001574698,0.00001062937],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004713342,"about_ca_system_score_gemma":0.0001628924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002078243,"about_ca_topic_score_gemma":0.00000426149,"domain_scores_codex":[0.998854,0.00004495739,0.000329509,0.0001396713,0.0004284832,0.0002033762],"domain_scores_gemma":[0.9993478,0.00001493658,0.0001247547,0.0001475066,0.00005502572,0.000309943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0006563085,0.001210184,0.05696472,0.0003927545,0.002261054,0.005355524,0.0007855654,0.004589155,0.6178469,0.003057215,0.09001764,0.216863],"study_design_scores_gemma":[0.01126995,0.004316917,0.08050614,0.000318185,0.0006144317,0.00368704,0.001140807,0.006496183,0.07576692,0.01754064,0.7967176,0.001625146],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.984157,0.01181418,0.0006350261,0.002871028,0.0003258974,0.00004990621,0.000006417802,0.000005981676,0.0001345259],"genre_scores_gemma":[0.9864231,0.01253233,0.0001762743,0.0004657625,0.0002472691,9.078774e-7,0.00001837193,0.00002136547,0.0001146151],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7067,"threshold_uncertainty_score":0.3637546,"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."}}