{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006256009,0.0002312662,0.0002853193,0.001126115,0.0002843113,0.0005269962,0.0002932521,0.0005897763,0.002378049],"category_scores_gemma":[0.002832729,0.0001677364,0.0004331529,0.0008677345,0.0003175799,0.0001784831,0.0003135892,0.0004936761,0.0002009792],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001771605,"about_ca_system_score_gemma":0.0001545815,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002186114,"about_ca_topic_score_gemma":0.001616876,"domain_scores_codex":[0.9994715,0.000112581,0.0000458443,0.0002111802,0.00009476486,0.00006413132],"domain_scores_gemma":[0.998667,0.0004860573,0.0004772745,0.00009773971,0.00009749653,0.0001743915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003224631,0.00002025338,0.9877151,0.00004483347,0.0003365349,0.0008496246,0.00004387956,0.0002647483,0.002881254,0.0001270539,0.0001506496,0.007243678],"study_design_scores_gemma":[0.00001704351,0.0001265638,0.994097,0.00001564673,0.0001979728,0.003110321,0.00004995744,0.0008614964,0.0005738311,0.0003907106,0.0005520072,0.000007420238],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994456,0.00355644,0.0006311655,0.0000969829,0.00001872621,0.000006636628,0.0004250161,0.00003693053,0.0007721679],"genre_scores_gemma":[0.9990433,0.0004052701,0.0001862049,0.00001686237,0.00001958625,0.0000023035,0.000180359,0.000003318948,0.000142848],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002378049,"threshold_uncertainty_score":0.007955372,"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."}}