{"id":"W2800195339","doi":"10.1007/s10689-018-0087-1","title":"Report of a bi-allelic truncating germline mutation in TP53","year":2018,"lang":"en","type":"article","venue":"Familial Cancer","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"Canadian Institutes of Health Research","keywords":"Germline; Li–Fraumeni syndrome; Genetics; Germline mutation; Human genetics; Allele; Biology; Mutation; Gene; Cancer research","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002161877,0.0001129031,0.0002694277,0.0001533853,0.00002539863,0.000003420033,0.00005392588,0.0001091973,0.0002289066],"category_scores_gemma":[0.0002525401,0.0001100849,0.00007327669,0.0004209978,0.00009981546,0.00004121099,0.00002618536,0.0001627607,0.00001859227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002599354,"about_ca_system_score_gemma":0.0004508763,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003646363,"about_ca_topic_score_gemma":0.002125172,"domain_scores_codex":[0.998755,0.00002441188,0.00045955,0.0002716179,0.0002887238,0.0002006824],"domain_scores_gemma":[0.9991913,0.00001863588,0.0001873637,0.0002941634,0.0002435343,0.00006497469],"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":[0.001684247,0.0004195114,0.03618326,0.0005031794,0.000222593,0.002100703,0.004960552,0.000612307,0.8208809,0.0002490397,0.006078933,0.1261048],"study_design_scores_gemma":[0.01686091,0.002857253,0.4559162,0.002774551,0.0005388737,0.00150306,0.0006632184,0.01693077,0.4303162,0.0006018616,0.06999596,0.001041168],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924873,0.0007518523,0.0006332683,0.0004091197,0.0006526999,0.0003703897,0.00001461708,0.00004309978,0.004637728],"genre_scores_gemma":[0.9971845,0.00008155796,0.001052786,0.0003288811,0.0006617779,0.00006015897,0.00003773824,0.00002829466,0.0005643124],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4197329,"threshold_uncertainty_score":0.5512234,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0219080294424008,"score_gpt":0.3211082222628187,"score_spread":0.2992001928204179,"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."}}