{"id":"W4414494210","doi":"10.1158/1538-7445.pediatric25-a002-pr011","title":"Abstract A002-PR011: Precision Diagnosis in High-Risk Pediatric Oncology through Integrated Whole Genome, Transcriptome, and Epigenome Profiling","year":2025,"lang":"en","type":"article","venue":"Cancer Research","topic":"Cancer Diagnosis and Treatment","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation","funders":"","keywords":"Germline; Epigenome; Precision medicine; Pediatric cancer; Copy-number variation; Germline mutation; Rhabdomyosarcoma; Childhood cancer; DNA methylation","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":[0.002628258,0.0003915678,0.000384017,0.000974481,0.0003814901,0.001473591,0.0006632434,0.0005056149,0.00940276],"category_scores_gemma":[0.003129939,0.0003393262,0.0004674612,0.001013452,0.0003519935,0.0007204919,0.001514275,0.0009783631,0.002684335],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007076222,"about_ca_system_score_gemma":0.001541541,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002731364,"about_ca_topic_score_gemma":0.004426986,"domain_scores_codex":[0.9991587,0.000188761,0.00004130493,0.0002007776,0.0003380861,0.00007241584],"domain_scores_gemma":[0.9974795,0.0006037807,0.000430751,0.000300061,0.0008809976,0.0003048269],"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":[0.00215608,0.0001773372,0.3113298,0.001710929,0.000505409,0.0009117535,0.0007895085,0.004806728,0.1703743,0.004787394,0.1219178,0.380533],"study_design_scores_gemma":[0.0002329532,0.001140523,0.492486,0.0007164127,0.0004550597,0.003617844,0.0006111829,0.0161289,0.1396363,0.0076246,0.3371995,0.0001508358],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6890722,0.01116657,0.1104484,0.01206103,0.0009813748,0.0009346037,0.1109107,0.01295633,0.05146867],"genre_scores_gemma":[0.7720302,0.006091712,0.1284072,0.003258649,0.0004357423,0.0006371345,0.06867484,0.001859869,0.01860461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00940276,"threshold_uncertainty_score":0.03145534,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06733933130728756,"score_gpt":0.4190286492060226,"score_spread":0.351689317898735,"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."}}