{"id":"W2917040033","doi":"10.1007/s00439-019-01989-8","title":"Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer","year":2019,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; Lunenfeld-Tanenbaum Research Institute; Ontario Institute for Cancer Research; University of Toronto; Mount Sinai Hospital","funders":"Common Fund; National Cancer Institute; Florida Department of Health; National Heart, Lung, and Blood Institute; Instituto de Salud Carlos III; National Health and Medical Research Council; Medical Research Council; Groupement des Entreprises Françaises dans la lutte contre le Cancer; University of Miami; Hellenic Health Foundation; Wereld Kanker Onderzoek Fonds; Génome Québec; Conseil Régional des Pays de la Loire; Moffitt Cancer Center; NIH Office of the Director; California Department of Public Health; Cancer Council Victoria; Deutsche Krebshilfe; U.S. Public Health Service; Associazione Italiana per la Ricerca sul Cancro; Umeå Universitet; NordForsk; Vetenskapsrådet; National Institute of Mental Health; Stockholms Läns Landsting; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Cancerfonden; Deutsche Forschungsgemeinschaft; Cancer Research UK; National Institute of Diabetes and Digestive and Kidney Diseases; World Cancer Research Fund; Broad Institute; University of South Florida; Västerbotten Läns Landsting; Deutsches Krebsforschungszentrum; ZonMw; World Cancer Research Fund International; Memorial Sloan-Kettering Cancer Center; Johns Hopkins University; National Institute for Health and Care Research; Division of Cancer Prevention, National Cancer Institute; Servicio Gallego de Salud; Harvard University; University of Pennsylvania; National Institutes of Health; Association Anne de Bretagne Genetique; Université de Genève; U.S. Department of Health and Human Services","keywords":"Biology; Genome-wide association study; Colorectal cancer; Transcriptome; Gene; Genetics; Human genetics; Genetic association; Gene expression; Cancer; Bioinformatics; Single-nucleotide polymorphism; Computational biology; Genotype","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":[0.0001916725,0.0002047212,0.0003646722,0.00007174395,0.00006497343,0.000005971195,0.0003034827,0.0002955469,0.000130573],"category_scores_gemma":[0.00009181398,0.0001895288,0.0001407511,0.0001029413,0.0001065283,0.000002394297,0.0001664553,0.0001066213,0.000006848209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002563611,"about_ca_system_score_gemma":0.00025625,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003779825,"about_ca_topic_score_gemma":0.0002260547,"domain_scores_codex":[0.9983677,0.0001714474,0.0005938272,0.0004105937,0.0001852523,0.0002711694],"domain_scores_gemma":[0.9986568,0.00003016264,0.0005441329,0.0004813133,0.0001692286,0.0001183778],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002877657,0.00004507904,0.4232356,0.000026221,0.00008952722,3.740729e-7,0.0002995867,0.003037249,0.5718645,0.000005843779,0.0007805561,0.0005866915],"study_design_scores_gemma":[0.0007002383,0.0006502178,0.486201,0.00002283726,0.00008567917,0.000002890483,0.00004118594,0.0002346341,0.5081182,0.0002038975,0.003555162,0.0001840151],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936144,0.0031169,0.002011594,0.00001880293,0.0003046137,0.0004034095,0.00005271349,0.000008101094,0.0004694496],"genre_scores_gemma":[0.9779907,0.001158436,0.0198689,0.00003579659,0.0002551754,0.00002285741,0.00006747094,0.00003481894,0.0005658671],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06374632,"threshold_uncertainty_score":0.7728761,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009344713312830514,"score_gpt":0.2522030545376479,"score_spread":0.2428583412248174,"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."}}