{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003951706,0.000709336,0.0003416798,0.001266368,0.0004573748,0.0007645601,0.0004387881,0.0009864155,0.002993426],"category_scores_gemma":[0.001719239,0.0001851572,0.0004293896,0.0009728739,0.0004065064,0.0002457141,0.0005197666,0.0004424527,0.0004338541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002410923,"about_ca_system_score_gemma":0.0002188979,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008583925,"about_ca_topic_score_gemma":0.001083629,"domain_scores_codex":[0.9996448,0.00003834648,0.00005548271,0.0001088644,0.00009105678,0.00006145958],"domain_scores_gemma":[0.9994093,0.0002534747,0.0001355066,0.00005427779,0.00005322786,0.00009416449],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001879133,0.0002076637,0.6422825,0.0001917281,0.0004849656,0.1017165,0.000738363,0.001969778,0.1933904,0.001441587,0.001639737,0.05405779],"study_design_scores_gemma":[0.0000913488,0.0003594501,0.8302854,0.0001066284,0.0006731564,0.1217001,0.0004496217,0.002826971,0.0329629,0.001543069,0.008943233,0.00005816659],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960736,0.000560746,0.0011502,0.0001327468,0.00002699223,0.00001169484,0.0007728632,0.00003898682,0.001232291],"genre_scores_gemma":[0.9979803,0.0001872052,0.000674628,0.00009563265,0.0000235796,0.000005025992,0.0005228089,0.0000211151,0.0004898065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002993426,"threshold_uncertainty_score":0.01001406,"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."}}