{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001091396,0.0004100984,0.0006680895,0.0008646799,0.0002554912,0.0006933206,0.0002602013,0.0003011746,0.002192924],"category_scores_gemma":[0.003499813,0.0002803253,0.0009304317,0.001291587,0.0003312262,0.0003036061,0.0005818451,0.0007139232,0.0002813852],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001570701,"about_ca_system_score_gemma":0.0003288334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002415297,"about_ca_topic_score_gemma":0.003282673,"domain_scores_codex":[0.9993306,0.0002202251,0.0000387353,0.0002692789,0.0000787509,0.00006244495],"domain_scores_gemma":[0.9984755,0.001009337,0.0001830368,0.0002127715,0.00005219698,0.00006707563],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001378543,0.00005953993,0.9226776,0.0001528739,0.001480366,0.0003579615,0.0001182066,0.01474759,0.03153918,0.0008655655,0.0008251363,0.02579744],"study_design_scores_gemma":[0.00008431911,0.0001504372,0.9224382,0.00003237198,0.001070272,0.0006225946,0.0001328971,0.0631095,0.005540149,0.004500134,0.002278672,0.00004032021],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9736246,0.001385959,0.02016079,0.0002347432,0.00001787053,0.000009217577,0.003370323,0.0002936597,0.0009027017],"genre_scores_gemma":[0.9934545,0.0003000745,0.004218311,0.00007682355,0.00001733105,0.000009982678,0.001716301,0.00004235477,0.0001644952],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002415297,"threshold_uncertainty_score":0.00733602,"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."}}