{"id":"W2123636830","doi":"10.1136/jmg.2008.058958","title":"High frequency of de novo mutations in Li–Fraumeni syndrome","year":2009,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":169,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Li–Fraumeni syndrome; Germline; Genetics; Germline mutation; Biology; Mutation; Cancer; Family history; Gene; Cancer research; Medicine; Internal medicine","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":[0.0004143205,0.0003623231,0.0004400555,0.001286758,0.0005844791,0.0006292273,0.0004154958,0.002265268,0.002186575],"category_scores_gemma":[0.004336881,0.0002085939,0.0001020924,0.0008087507,0.0006964842,0.0004799961,0.0002534672,0.0008933988,0.0007689789],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006207763,"about_ca_system_score_gemma":0.0001797277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001019942,"about_ca_topic_score_gemma":0.001191349,"domain_scores_codex":[0.9994038,0.000154708,0.00005525524,0.0001283216,0.000176427,0.00008138324],"domain_scores_gemma":[0.9974645,0.001364717,0.0005281867,0.0001408237,0.0002560388,0.0002457093],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004892615,0.0001108721,0.5294527,0.0001267105,0.00004271467,0.409364,0.001163759,0.0003942436,0.01224402,0.0009066616,0.01418546,0.03151958],"study_design_scores_gemma":[0.00004469074,0.0001309415,0.1275885,0.00004204104,0.00002549889,0.861984,0.0003273106,0.001142163,0.001870248,0.000704422,0.006114835,0.00002519398],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9802765,0.002298471,0.000687948,0.007732134,0.0001928897,0.00002345128,0.0001633037,0.0001014159,0.008524004],"genre_scores_gemma":[0.9958147,0.0007067018,0.0003956988,0.001549322,0.0004492379,0.000006357905,0.00007504991,0.00001220375,0.0009906164],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002265268,"threshold_uncertainty_score":0.007314801,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01471162783883518,"score_gpt":0.2814100087304083,"score_spread":0.2666983808915732,"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."}}