{"id":"W2095909899","doi":"10.1177/1947601911413466","title":"Li-Fraumeni Syndrome","year":2011,"lang":"en","type":"article","venue":"Genes & Cancer","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":508,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Li–Fraumeni syndrome; Germline; Genetics; Phenotype; Germline mutation; Cancer; Genotype; Genotype-phenotype distinction; Mutation; Medicine; Biology; Gene; Bioinformatics","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.00006338207,0.0001560031,0.0002392991,0.00008383059,0.00004565792,0.000006488097,0.0001013774,0.0001205432,0.003561892],"category_scores_gemma":[0.000009462627,0.0001438772,0.0001133181,0.0002067784,0.00005808412,0.00004467582,0.00004904284,0.0001569966,0.0003924134],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001646233,"about_ca_system_score_gemma":0.0002320577,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006631478,"about_ca_topic_score_gemma":0.0001246073,"domain_scores_codex":[0.9989699,0.00001566805,0.0001810144,0.0002985813,0.0002186972,0.0003161851],"domain_scores_gemma":[0.999263,0.000005288197,0.00005648344,0.0004261335,0.00007551951,0.0001735294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00130051,0.0007247093,0.05649252,0.000662155,0.001785679,0.002965974,0.005710184,0.0001352543,0.3325742,0.001291417,0.06041,0.5359474],"study_design_scores_gemma":[0.003693931,0.0008327231,0.1268712,0.0004618733,0.0007136951,0.001606704,0.0001707671,0.0001493099,0.1733581,0.0003634006,0.6910377,0.0007405916],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9431499,0.02597181,0.0005564094,0.0004860217,0.002140747,0.0005181219,0.00002720959,0.0002320484,0.02691779],"genre_scores_gemma":[0.9913484,0.001433395,0.001120074,0.001258713,0.0003566226,0.0001622291,0.00001223862,0.00006735247,0.004240959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6306277,"threshold_uncertainty_score":0.997349,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04243354694982171,"score_gpt":0.2686752694802235,"score_spread":0.2262417225304018,"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."}}