{"id":"W4405619942","doi":"10.1016/j.pan.2024.05.027","title":"Whole exome sequencing identifies 25 deleterious germline variants involved in IPMN clinical evolution","year":2024,"lang":"en","type":"article","venue":"Pancreatology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Pancreas Centre (Canada)","funders":"","keywords":"Exome sequencing; Germline; Medicine; Genetics; Exome; Computational biology; Evolutionary biology; Mutation; Biology; Gene","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":[0.0002971776,0.0001548795,0.000261533,0.0001050944,0.00004768332,0.00004003332,0.0001582299,0.0002574707,0.00002261258],"category_scores_gemma":[0.00015883,0.0001481649,0.0001343573,0.000117456,0.0001127778,0.000006458958,0.0001260211,0.0001397687,0.00007793553],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000475767,"about_ca_system_score_gemma":0.0002421442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000171981,"about_ca_topic_score_gemma":0.0004200087,"domain_scores_codex":[0.9985562,0.0001480516,0.0004100091,0.0005111412,0.00006339976,0.0003111931],"domain_scores_gemma":[0.9994857,0.00004006553,0.0000506256,0.0002918223,0.00004497024,0.00008680421],"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":[0.0002304213,0.0001679762,0.1019333,0.0001999953,0.0002989227,0.001309241,0.0001620219,0.0000883508,0.8859231,0.002026131,0.003893089,0.003767383],"study_design_scores_gemma":[0.006338918,0.002006129,0.7621114,0.0006821071,0.0007622073,0.002557741,0.001799483,0.0137026,0.04191934,0.0183644,0.1466786,0.003077116],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886307,0.008907445,0.001032118,0.0001880138,0.0007680251,0.0001309144,0.00004879643,0.00003204578,0.0002619764],"genre_scores_gemma":[0.9980603,0.0005656017,0.0002053311,0.000192739,0.0003138747,0.00002916218,0.0002351311,0.00002495227,0.0003728678],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8440038,"threshold_uncertainty_score":0.6041989,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02111353427298258,"score_gpt":0.3001031689597617,"score_spread":0.2789896346867792,"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."}}