{"id":"W4318220629","doi":"10.1038/s41698-023-00354-3","title":"Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics","year":2023,"lang":"en","type":"article","venue":"npj Precision Oncology","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Common Fund; National Center for Research Resources; Moonshot Research and Development Program; National Institute of Diabetes and Digestive and Kidney Diseases; National Cancer Institute; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Center for Advancing Translational Sciences; Medical Research Council; Canadian Cancer Society Research Institute; Université de Genève; Cardiff University; NIH Office of the Director; Van Andel Research Institute; Oulun Yliopisto; Cancer Moonshot; Broad Institute; Sunovion; Centre International de Recherche sur le Cancer; U.S. Department of Health and Human Services; COPD Foundation; North Carolina State University; Uniting Against Lung Cancer; University of Chicago; Harvard University; National Institute on Drug Abuse; Stanley Center for Psychiatric Research, Broad Institute; LUNGevity Foundation; University of Pennsylvania; National Institute of Neurological Disorders and Stroke; Leidos; Wellcome Trust; AstraZeneca; Pfizer; University of Miami; Icahn School of Medicine at Mount Sinai; Terveyden ja hyvinvoinnin laitos; National Institutes of Health","keywords":"Germline; Cancer; Germline mutation; Exome; Exome sequencing; Somatic cell; Genetics; Biology; Oncology; Gene; Medicine; Internal medicine; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005799472,0.0001390998,0.0002768865,0.00007257425,0.0000701405,0.00001232176,0.0001310532,0.0001933046,0.00004645225],"category_scores_gemma":[0.000482325,0.0001280662,0.00006047623,0.0001218723,0.00009768688,0.000002762576,0.0001859139,0.000114046,0.0000103826],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003601664,"about_ca_system_score_gemma":0.0001794025,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001192855,"about_ca_topic_score_gemma":0.0001614147,"domain_scores_codex":[0.9987021,0.000183284,0.0004006635,0.0003509418,0.0001463829,0.0002165915],"domain_scores_gemma":[0.9990904,0.0001151286,0.0002706326,0.0002873097,0.0001446732,0.00009185651],"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":[0.0004898327,0.00009720252,0.03520742,0.00004094648,0.00007385133,0.0001357357,0.0002710209,0.0001440577,0.7928242,0.000009966427,0.001396202,0.1693095],"study_design_scores_gemma":[0.002536551,0.002558945,0.5705801,0.00007394989,0.0001259771,0.00004821202,0.00008265,0.002025864,0.1771463,0.0008048106,0.2434914,0.0005253079],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962507,0.0008696405,0.001684532,0.0001215678,0.0004140108,0.0001981602,0.0002627301,0.00001482831,0.0001837813],"genre_scores_gemma":[0.9912807,0.006475969,0.001315902,0.0001297773,0.0001691892,0.00003407558,0.0002844463,0.00002262272,0.0002872685],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.615678,"threshold_uncertainty_score":0.5222387,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01733859733810806,"score_gpt":0.3149011020100438,"score_spread":0.2975625046719358,"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."}}