{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.06998264,0.00148813,0.001656035,0.003191153,0.003516025,0.002980533,0.003243613,0.002020608,0.005936135],"category_scores_gemma":[0.05174233,0.001133103,0.001832807,0.004257277,0.002425631,0.00142853,0.005731986,0.002500212,0.001976948],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002666123,"about_ca_system_score_gemma":0.01055473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00637576,"about_ca_topic_score_gemma":0.01016237,"domain_scores_codex":[0.954043,0.03487198,0.003109147,0.003401959,0.002877214,0.001696698],"domain_scores_gemma":[0.9764463,0.004911235,0.002093042,0.00612225,0.006431353,0.00399587],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.09002713,0.006439487,0.4274489,0.008238497,0.004764929,0.003691675,0.01464594,0.005495267,0.02672845,0.09669726,0.08577403,0.2300485],"study_design_scores_gemma":[0.02909784,0.02255033,0.337351,0.005981845,0.004927902,0.003399659,0.007059585,0.00983467,0.01420727,0.03699379,0.528019,0.0005772571],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.2128219,0.005551347,0.1754652,0.009678572,0.001985324,0.5295052,0.03939595,0.0006988451,0.02489772],"genre_scores_gemma":[0.1552992,0.001189062,0.1658355,0.004642746,0.0005081643,0.6576152,0.01190939,0.0002701207,0.002730564],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.06998264,"threshold_uncertainty_score":0.370108,"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."}}