{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003402082,0.0002406917,0.0002616409,0.0007771694,0.0002433442,0.0004039062,0.0001958005,0.0004472221,0.0009354148],"category_scores_gemma":[0.001346891,0.0001307547,0.0002222891,0.0009465759,0.0002162822,0.0001616896,0.0003527529,0.0003863097,0.0001751951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002203656,"about_ca_system_score_gemma":0.0001348812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001205998,"about_ca_topic_score_gemma":0.002967235,"domain_scores_codex":[0.9997672,0.00004751025,0.00002313813,0.00008001211,0.00004933221,0.00003273691],"domain_scores_gemma":[0.9993432,0.0003161666,0.0001653713,0.00006717627,0.00005393756,0.00005415889],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000925102,0.0000803287,0.5841759,0.0003426617,0.0008522927,0.005660393,0.0009257891,0.002580356,0.3095739,0.001334464,0.003141201,0.09040762],"study_design_scores_gemma":[0.00003808531,0.00008997371,0.9520482,0.00005692484,0.0003289512,0.01276914,0.0003049289,0.002786939,0.01764583,0.002428366,0.01148328,0.0000194076],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927338,0.001821514,0.002465091,0.0002458277,0.00001299927,0.000009022591,0.00155517,0.00003966633,0.001116969],"genre_scores_gemma":[0.9943141,0.0007463687,0.003009451,0.0001479639,0.00001958062,0.000009235691,0.001520756,0.00002639939,0.0002061035],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001205998,"threshold_uncertainty_score":0.003129244,"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."}}