{"id":"W2994781997","doi":"10.1158/1055-9965.epi-19-0887","title":"Whole Exome Sequencing of Highly Aggregated Lung Cancer Families Reveals Linked Loci for Increased Cancer Risk on Chromosomes 12q, 7p, and 4q","year":2019,"lang":"en","type":"article","venue":"Cancer Epidemiology Biomarkers & Prevention","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institut universitaire de cardiologie et de pneumologie de Québec","funders":"National Institute of Environmental Health Sciences; U.S. Department of Health and Human Services; National Institutes of Health; National Cancer Institute; National Heart, Lung, and Blood Institute; Cancer Prevention and Research Institute of Texas","keywords":"Lung cancer; Exome sequencing; Biology; Haplotype; Genetics; Cancer; Family history; Exome; Locus (genetics); Genome-wide association study; Gene; Medicine; Oncology; Single-nucleotide polymorphism; Internal medicine; Genotype; Mutation","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":[0.0003720217,0.0004220427,0.0003671899,0.001249321,0.0006171718,0.0004447387,0.0002456422,0.0004579349,0.002577984],"category_scores_gemma":[0.001057259,0.0002037982,0.0005323561,0.001301681,0.0002731484,0.0001065271,0.0006844811,0.0004914663,0.0002260213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002085599,"about_ca_system_score_gemma":0.0001548333,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003427007,"about_ca_topic_score_gemma":0.005161733,"domain_scores_codex":[0.9996277,0.00007374658,0.00003023568,0.0001273895,0.00007880091,0.00006205331],"domain_scores_gemma":[0.9994612,0.0002262141,0.0001293832,0.00006827195,0.00004908818,0.00006586784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009581755,0.0001266861,0.8268175,0.0001452097,0.001291588,0.009826835,0.001064265,0.001543926,0.1299867,0.0002878463,0.001509107,0.02644202],"study_design_scores_gemma":[0.00004414275,0.0001055856,0.9875038,0.00002445183,0.0002711977,0.004883415,0.000196533,0.0008174612,0.004268742,0.0002752817,0.001597755,0.00001147273],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997352,0.0002483314,0.001043573,0.00005095068,0.000004597414,0.000009641581,0.0009113518,0.00001990572,0.0003595551],"genre_scores_gemma":[0.9966697,0.0001769625,0.001063921,0.0000603292,0.00001119552,0.00002081347,0.001578506,0.00001085721,0.0004077302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003427007,"threshold_uncertainty_score":0.008624256,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02028925634782591,"score_gpt":0.3060165479591185,"score_spread":0.2857272916112926,"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."}}