{"id":"W4247069058","doi":"10.1007/978-1-4614-9209-2_54-1","title":"UNC93B1 Deficiency","year":2018,"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":"Chemistry","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":[0.0001362881,0.0006738135,0.0003695377,0.0005459584,0.0003224294,0.0007964172,0.0005437831,0.0007575325,0.0306889],"category_scores_gemma":[0.0002933535,0.0001839653,0.0001958937,0.0005227001,0.0003638559,0.0007887715,0.0008912592,0.001230396,0.01636942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004673151,"about_ca_system_score_gemma":0.0002863358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004848597,"about_ca_topic_score_gemma":0.001031325,"domain_scores_codex":[0.99993,0.000008191424,0.000003042141,0.00001558137,0.00003388962,0.000009246794],"domain_scores_gemma":[0.9999564,0.00001673349,0.000003456169,0.000005630987,0.000008359062,0.000009463237],"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":[0.00005396593,0.00003073801,0.0001256719,0.0003273279,0.000009552807,0.001251143,0.0001100269,0.0002958829,0.007754787,0.05457739,0.3449134,0.5905502],"study_design_scores_gemma":[0.000003674429,0.000008809556,0.000217092,0.000160445,0.000004266968,0.003122474,0.00002185816,0.00008571554,0.001292305,0.01315769,0.9819196,0.000005967602],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.00435982,0.157896,0.02290306,0.007290634,0.006524524,0.00005921463,0.0007142849,0.001144776,0.7991077],"genre_scores_gemma":[0.01625445,0.06513119,0.01025328,0.002756358,0.0009792212,0.00008867318,0.0008379722,0.0004317843,0.9032671],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.0306889,"threshold_uncertainty_score":0.1026646,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009330101514279657,"score_gpt":0.2147526146859482,"score_spread":0.2054225131716686,"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."}}