{"id":"W2750786164","doi":"10.1159/000479463","title":"Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting <b><i>NUP98</i></b>","year":2017,"lang":"en","type":"article","venue":"Cytogenetic and Genome Research","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Victoria General Hospital; Canada's Michael Smith Genome Sciences Centre; University of British Columbia","funders":"","keywords":"Biology; Chromosomal translocation; Breakpoint; Genetics; Pseudogene; Sanger sequencing; Gene; Molecular biology; Genome; DNA sequencing","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":[0.00006554634,0.0003887094,0.0002537237,0.0007550026,0.0002155205,0.0002576868,0.0002969336,0.0007468573,0.001543545],"category_scores_gemma":[0.0005077897,0.0002016343,0.000281543,0.0004096108,0.000226605,0.0001279849,0.000285766,0.0004278714,0.0004510104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001724214,"about_ca_system_score_gemma":0.0001254401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001275824,"about_ca_topic_score_gemma":0.0009151968,"domain_scores_codex":[0.999863,0.00001157149,0.00001481272,0.0000592115,0.00002442388,0.00002689873],"domain_scores_gemma":[0.9998098,0.00006833243,0.00004141411,0.00001952674,0.00001655643,0.00004443547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005065802,0.0001187613,0.03325922,0.00009594302,0.0000481812,0.1744974,0.0005647565,0.0005471308,0.7715999,0.0005403374,0.0004763814,0.01774536],"study_design_scores_gemma":[0.0001262614,0.001135802,0.355675,0.00004891842,0.0002709374,0.4779226,0.000814857,0.002994257,0.1404067,0.0008068158,0.01973357,0.00006442962],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944658,0.0003577503,0.003077909,0.0001816206,0.00002231767,0.00004440286,0.0008142059,0.00004901908,0.0009870197],"genre_scores_gemma":[0.9953054,0.0002973184,0.002151137,0.00008732155,0.0000184946,0.00001945474,0.001175221,0.0000198284,0.0009258725],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001543545,"threshold_uncertainty_score":0.00516367,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08151689490574981,"score_gpt":0.3465241713926357,"score_spread":0.2650072764868859,"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."}}