{"id":"W3163203868","doi":"10.1038/s41436-021-01170-5","title":"Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":771,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of British Columbia","funders":"Manchester Biomedical Research Centre; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute for Health and Care Research; Children's Tumor Foundation","keywords":"Medicine; Neurofibromatosis; Delphi method; Genetic testing; MEDLINE; Consensus conference; Pathology; Computer science; Internal medicine; Biology","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":[0.04478607,0.002202595,0.003460731,0.01097742,0.002024506,0.003405487,0.01076827,0.01438006,0.004339802],"category_scores_gemma":[0.08785051,0.001211776,0.007240595,0.00436056,0.002621622,0.004321186,0.004125283,0.01154899,0.004965997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00720542,"about_ca_system_score_gemma":0.02153695,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01676344,"about_ca_topic_score_gemma":0.01263476,"domain_scores_codex":[0.9494888,0.01839902,0.01615348,0.001989085,0.01142528,0.002544338],"domain_scores_gemma":[0.8716074,0.01884923,0.009404936,0.002723827,0.09264465,0.004769946],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002832491,0.0003529881,0.01013464,0.01246563,0.0008591291,0.002931106,0.001653655,0.002423987,0.00228577,0.01606373,0.5836399,0.3669063],"study_design_scores_gemma":[0.00134968,0.0003840373,0.02390182,0.05958289,0.002544124,0.01522992,0.003247257,0.005436473,0.002267584,0.0259992,0.8594915,0.0005655606],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.01586371,0.1690536,0.08510832,0.5644439,0.06173281,0.01243722,0.006873615,0.001133252,0.08335356],"genre_scores_gemma":[0.1051389,0.1327256,0.5411081,0.1251061,0.0187047,0.01523066,0.03479972,0.0004715657,0.02671466],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.04478607,"threshold_uncertainty_score":0.2368543,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06676641473566869,"score_gpt":0.3634027661174593,"score_spread":0.2966363513817906,"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."}}