{"id":"W4253511807","doi":"10.1007/978-1-4614-8678-7_54","title":"UNC93B1 Deficiency","year":2020,"lang":"en","type":"book-chapter","venue":"","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Biology","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":[0.00008389005,0.0006155003,0.0003348863,0.0004258184,0.0003208588,0.0006596743,0.0005189619,0.0006090231,0.0383659],"category_scores_gemma":[0.0001635887,0.0001739819,0.0001830712,0.0004320172,0.0002650051,0.0004980794,0.0006980763,0.0008916385,0.01937257],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000350951,"about_ca_system_score_gemma":0.0001913373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006916773,"about_ca_topic_score_gemma":0.001401137,"domain_scores_codex":[0.9999539,0.000005104125,0.000001682074,0.000009968719,0.00002199466,0.000007281692],"domain_scores_gemma":[0.9999735,0.000009988881,0.000002012731,0.000003608003,0.00000453271,0.000006313321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007046489,0.00003842621,0.0001953397,0.0003143071,0.00001082747,0.002300851,0.0001205143,0.0003656471,0.0166817,0.04563749,0.3703372,0.5639273],"study_design_scores_gemma":[0.000003893551,0.00001598742,0.0004975972,0.0001292144,0.000005255917,0.006042869,0.00003087639,0.000135351,0.002203362,0.009413559,0.9815158,0.000006209827],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.00498087,0.07507586,0.01312903,0.003062556,0.002810418,0.0000532952,0.0006135858,0.000887173,0.8993871],"genre_scores_gemma":[0.01702483,0.03145342,0.005848847,0.00148629,0.0003460044,0.00005811611,0.0006291186,0.0002655952,0.9428878],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.0383659,"threshold_uncertainty_score":0.1283467,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01049856427041543,"score_gpt":0.2041759220312785,"score_spread":0.193677357760863,"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."}}