{"id":"W3132615070","doi":"10.1038/s41698-021-00146-7","title":"Rare deleterious germline variants and risk of lung cancer","year":2021,"lang":"en","type":"article","venue":"npj Precision Oncology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Sinai Health System; Princess Margaret Cancer Centre","funders":"National Center for Research Resources; National Institute of Environmental Health Sciences; National Institute of General Medical Sciences; National Institutes of Health; Canadian Cancer Society Research Institute; National Institute on Aging; Princess Margaret Hospital Foundation; National Heart, Lung, and Blood Institute; World Health Organization; Roy Castle Lung Cancer Foundation; National Cancer Institute; Cancer Prevention and Research Institute of Texas; National Human Genome Research Institute","keywords":"Frameshift mutation; Genetics; Biology; Germline mutation; Lung cancer; Germline; Allele; Exome sequencing; Odds ratio; Gene; Exome; Mutation; Medicine; Internal medicine","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":[0.000114974,0.00009420421,0.0001917122,0.00002531299,0.00005130203,0.000008063701,0.00008956316,0.0001740853,0.0001576943],"category_scores_gemma":[0.0001803038,0.00008425814,0.00006555553,0.00005025641,0.00005195374,0.000001833635,0.0001996092,0.00006295172,0.000001462335],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001499604,"about_ca_system_score_gemma":0.0002616471,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000460454,"about_ca_topic_score_gemma":0.0001631719,"domain_scores_codex":[0.9991813,0.000117785,0.0002042752,0.0002937939,0.00006389682,0.0001389467],"domain_scores_gemma":[0.9993623,0.00004149532,0.000117233,0.000237093,0.0001610073,0.00008083837],"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":[0.0004451359,0.0002674363,0.05838099,0.00005149856,0.0002672925,0.0001446929,0.0001259516,0.0001670938,0.7688621,0.00004467332,0.006919258,0.1643238],"study_design_scores_gemma":[0.006118537,0.001725328,0.3657109,0.0001190985,0.0006223907,0.0006360746,0.0002205643,0.001820822,0.2629249,0.0007604956,0.3585096,0.0008312611],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882039,0.01013524,0.0004978396,0.0001075192,0.0002685902,0.00009283801,0.0001916996,0.000003684788,0.0004986536],"genre_scores_gemma":[0.9841554,0.01339953,0.001636018,0.0001919647,0.0001358014,0.00001584044,0.00008275967,0.00001331609,0.0003694236],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5059372,"threshold_uncertainty_score":0.3435947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007474100152581762,"score_gpt":0.2969756714777261,"score_spread":0.2895015713251443,"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."}}