{"id":"W3015001205","doi":"10.3390/genes11040387","title":"Genomics of MPNST (GeM) Consortium: Rationale and Study Design for Multi-Omic Characterization of NF1-Associated and Sporadic MPNSTs","year":2020,"lang":"en","type":"article","venue":"Genes","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University Health Network; Mount Sinai Hospital","funders":"University College London Hospitals NHS Foundation Trust; National Fusion Research Institute; National Cancer Institute; Cancer Research UK; Huntsman Cancer Institute; National Institute for Health and Care Research; Making Headway Foundation; Moffitt Cancer Center; Massachusetts General Hospital","keywords":"Exome sequencing; Genomics; Exome; Neurofibromatosis; Malignant peripheral nerve sheath tumor; Biology; Computational biology; Medicine; Bioinformatics; Pathology; Genome; Gene; Phenotype; Genetics","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":[0.0001126841,0.00008108458,0.0002821794,0.00003843478,0.00003519121,0.000007757999,0.00002436013,0.00003384605,0.00000650239],"category_scores_gemma":[0.00008690811,0.00007496871,0.00002684893,0.00006555954,0.00004866172,0.00004021357,0.00001902886,0.00002294734,3.881724e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000068237,"about_ca_system_score_gemma":0.00005621487,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005046369,"about_ca_topic_score_gemma":0.000001754575,"domain_scores_codex":[0.9993775,0.00003881051,0.0002721419,0.0001596694,0.00007766565,0.00007425255],"domain_scores_gemma":[0.9995449,0.00006422125,0.0001724908,0.00006773794,0.00009082429,0.00005983591],"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":[0.0002682912,0.0001814527,0.1390967,0.0001302958,0.00006259439,0.00000537106,0.0007137115,0.000004566475,0.8587415,0.00001651381,0.0000420281,0.0007370381],"study_design_scores_gemma":[0.004312421,0.001381561,0.7673486,0.00003704763,0.0002096559,0.00001733274,0.000416192,0.005644266,0.2203097,0.000006768089,0.0002035706,0.0001128311],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972501,0.0003273071,0.0009871479,0.0002239778,0.00002954952,0.00105509,0.0001124816,0.00001275295,0.000001597116],"genre_scores_gemma":[0.9982713,0.0001352464,0.00132675,0.0001159915,0.00002535782,0.00001971601,0.00007250937,0.00001337269,0.00001968536],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6384317,"threshold_uncertainty_score":0.3057135,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09335703580923975,"score_gpt":0.2828046414805591,"score_spread":0.1894476056713193,"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."}}