{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006634659,0.0002477104,0.0003142117,0.0006970546,0.0003364447,0.0006609613,0.0002255746,0.0004697167,0.00404346],"category_scores_gemma":[0.003510069,0.0001816261,0.0004264145,0.0006775083,0.0002382412,0.0002528951,0.0003221412,0.0004418593,0.0003280225],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001792454,"about_ca_system_score_gemma":0.0002180501,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002101998,"about_ca_topic_score_gemma":0.00327615,"domain_scores_codex":[0.9994048,0.0001015399,0.00004103543,0.0003166291,0.00006413444,0.00007195785],"domain_scores_gemma":[0.998691,0.0004634276,0.0004391724,0.0002035504,0.0000777062,0.0001251092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006807915,0.00004818145,0.9693387,0.00003502441,0.0003428672,0.0004587094,0.0001720515,0.0003270917,0.01899376,0.0001839783,0.0002883838,0.009130393],"study_design_scores_gemma":[0.00001193444,0.0001262112,0.9936131,0.00001107491,0.0001766062,0.001475663,0.00008091277,0.0009257115,0.002203578,0.0004915639,0.000873343,0.0000103223],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963509,0.0005076117,0.00146359,0.000049953,0.0000112536,0.000007727164,0.0009448173,0.0000405933,0.0006236175],"genre_scores_gemma":[0.998621,0.0001034517,0.0004252385,0.00002653233,0.000007907229,0.000005645418,0.0003929806,0.00001996902,0.0003974009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00404346,"threshold_uncertainty_score":0.01352674,"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."}}