{"id":"W4388070047","doi":"10.1016/j.cancergen.2023.08.063","title":"55. Clinical validation and implementation of exome, transcriptome and whole genome sequencing for pediatric cancers","year":2023,"lang":"en","type":"article","venue":"Cancer Genetics","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Exome sequencing; Exome; Indel; Computational biology; Copy-number variation; DNA sequencing; Genome; Fusion gene; Reference genome; Genomics; Biology; Bioinformatics; Genetics; Gene; Mutation; Single-nucleotide polymorphism; Genotype","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":[0.0002033234,0.0001038882,0.0001462468,0.0000583938,0.00005511763,0.00002215914,0.00006575039,0.00008916917,0.000006114311],"category_scores_gemma":[0.00002299704,0.0001169695,0.00004766988,0.000115058,0.00005722288,0.00000410241,0.00004533017,0.0000361266,6.585183e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000466279,"about_ca_system_score_gemma":0.0002998172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001132977,"about_ca_topic_score_gemma":0.0003020751,"domain_scores_codex":[0.9991468,0.00001778136,0.0003015059,0.0002797743,0.0000714209,0.0001826754],"domain_scores_gemma":[0.9995416,0.00003366527,0.000113461,0.0001355973,0.00009640645,0.00007921323],"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":[0.00009229479,0.00001277009,0.167278,0.0003622326,0.0001122527,8.217614e-7,0.0006337168,0.002876359,0.7947503,0.00006482894,0.002563524,0.03125291],"study_design_scores_gemma":[0.007826922,0.002093692,0.4589045,0.00003841228,0.0008135895,0.00000934845,0.003170282,0.002435295,0.3954746,0.0008899385,0.1271,0.001243341],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915954,0.005755576,0.001280242,0.0001125476,0.0002901451,0.0003456445,0.0006009406,0.000007538221,0.00001198629],"genre_scores_gemma":[0.9548351,0.0432362,0.0007989237,0.0001293209,0.0005303,0.00009238024,0.000301001,0.0000246695,0.00005215299],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3992757,"threshold_uncertainty_score":0.4769879,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03911016939528048,"score_gpt":0.3591918188939251,"score_spread":0.3200816494986446,"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."}}