{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02502408,0.0005526646,0.0006762742,0.001164008,0.001134911,0.002780173,0.001256734,0.001807732,0.005599772],"category_scores_gemma":[0.02444145,0.0005404822,0.0007596998,0.001032634,0.001056036,0.0009098974,0.002176011,0.002183971,0.004459484],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002012238,"about_ca_system_score_gemma":0.005823467,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009601509,"about_ca_topic_score_gemma":0.01087198,"domain_scores_codex":[0.9917954,0.0026653,0.0008835644,0.001330611,0.002317722,0.001007561],"domain_scores_gemma":[0.9790366,0.006599138,0.001083547,0.002919811,0.00899767,0.001363202],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.003327798,0.0004373574,0.2470196,0.001656255,0.0004495345,0.001560715,0.001819019,0.005595877,0.08817904,0.01244609,0.1691527,0.4683559],"study_design_scores_gemma":[0.0006602777,0.001718035,0.337819,0.002173991,0.0007665537,0.00279967,0.0006461574,0.006386026,0.1006353,0.004962096,0.5412592,0.0001737387],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4267044,0.03979849,0.2092912,0.06110611,0.008469447,0.005294624,0.06895964,0.00895004,0.1714261],"genre_scores_gemma":[0.6263258,0.009399296,0.2455955,0.02561254,0.001560047,0.005908665,0.05378329,0.002672206,0.02914263],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02502408,"threshold_uncertainty_score":0.1323416,"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."}}