{"id":"W4313488074","doi":"10.1158/2159-8290.cd-22-0786","title":"Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA","year":2023,"lang":"en","type":"article","venue":"Cancer Discovery","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; Ontario Institute for Cancer Research; University of Toronto; Mount Sinai Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; University College London Hospitals NHS Foundation Trust; National Fusion Research Institute; Rosetrees Trust; Making Headway Foundation; Sarcoma UK; National Institutes of Health; Cancer Research UK; Boston Children's Hospital; Ira Sohn Research Conference Foundation","keywords":"Biology; Malignant peripheral nerve sheath tumor; CDKN2A; Genome instability; Exome sequencing; Chromosome instability; Cancer research; Comparative genomic hybridization; Neurofibromatosis; Exome; DNA methylation; Genetics; Phenotype; Genome; Chromosome; Gene; DNA damage; DNA","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":[0.0001752091,0.000171811,0.0005199054,0.000104197,0.00003896941,0.00002771124,0.00009394446,0.00006019058,0.00003235601],"category_scores_gemma":[0.00003156334,0.0001282775,0.0000997168,0.0001992524,0.00008355646,0.0001754666,0.0001091015,0.0001930244,0.000004092138],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000128186,"about_ca_system_score_gemma":0.0001707298,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005470508,"about_ca_topic_score_gemma":0.0003626708,"domain_scores_codex":[0.9985911,0.00005670768,0.0004979104,0.0003739011,0.0001877744,0.0002926313],"domain_scores_gemma":[0.9992481,0.0000696436,0.000181298,0.0003652301,0.00002998085,0.0001057041],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005039002,0.00007257938,0.9891419,0.0003329079,0.00002379643,0.000596004,0.00006138365,0.000133236,0.008689594,0.00002222112,0.0003182879,0.0001041636],"study_design_scores_gemma":[0.002690055,0.0004606459,0.9934442,0.0005473271,0.00008320551,0.00008252922,0.000402728,0.0005624794,0.001501657,0.00001813827,0.00005272244,0.0001542891],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980819,0.0007687343,0.0000444929,0.0002013661,0.000283065,0.0003180339,0.0001879644,0.00003601291,0.00007844749],"genre_scores_gemma":[0.9986445,0.0001910401,0.00002855974,0.0001319298,0.00009978544,0.00004787904,0.00001334327,0.00003526496,0.0008076738],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007187937,"threshold_uncertainty_score":0.5231005,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02845260102874225,"score_gpt":0.2859152167475219,"score_spread":0.2574626157187797,"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."}}