{"id":"W2232697670","doi":"10.1158/2159-8290.cd-15-0402","title":"Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer","year":2015,"lang":"en","type":"article","venue":"Cancer Discovery","topic":"Pancreatic and Hepatic Oncology Research","field":"Medicine","cited_by":366,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Mental Health; National Institute of General Medical Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; Howard Hughes Medical Institute","keywords":"Pancreatic cancer; CDKN2A; Biology; Genetics; Cancer; Germline mutation; Genetic heterogeneity; Germline; Exome sequencing; PALB2; Genome; Hereditary pancreatitis; Gene; Mutation; Phenotype; Trypsinogen","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":[],"consensus_categories":[],"category_scores_codex":[0.0002796589,0.0001637096,0.0005353286,0.00005958372,0.00007585019,0.00002007247,0.0001872148,0.000088237,0.00007725334],"category_scores_gemma":[0.000124852,0.000102537,0.0001142824,0.0002167154,0.0003573798,0.0001093751,0.00009110611,0.0001826728,0.00002115352],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005326794,"about_ca_system_score_gemma":0.002178017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004288226,"about_ca_topic_score_gemma":0.0007591014,"domain_scores_codex":[0.9985402,0.0001007298,0.0003265696,0.0002628609,0.0004098995,0.0003597589],"domain_scores_gemma":[0.9989631,0.0001065762,0.0001196981,0.0004372379,0.0001946737,0.0001787754],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003862702,0.00006434073,0.9463858,0.0002303158,0.0003617808,0.00003477831,0.0008862171,0.0005685876,0.04868795,0.00006031928,0.001212115,0.001121548],"study_design_scores_gemma":[0.002575938,0.0004565829,0.9834374,0.0003125572,0.0009484983,0.00005915962,0.001134776,0.001245575,0.004939371,0.0003865494,0.004259752,0.0002438765],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9813044,0.01492557,0.0003202883,0.0009672171,0.0002485166,0.0004721952,0.000131244,0.00001882128,0.001611712],"genre_scores_gemma":[0.9940406,0.00186051,0.0002578626,0.0005910537,0.0005159465,0.0002618489,0.00001647002,0.00002462915,0.002431086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04374857,"threshold_uncertainty_score":0.6482543,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08514090614727875,"score_gpt":0.3590900383823112,"score_spread":0.2739491322350324,"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."}}