{"id":"W3197364483","doi":"10.1038/s41588-021-00913-z","title":"Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression","year":2021,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Single-cell and spatial transcriptomics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2182,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Institute for Cancer Research","funders":"Common Fund; National Institute of Environmental Health Sciences; National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute; National Center for Advancing Translational Sciences; Medical Research Council; National Institute of Mental Health; Horizon 2020 Framework Programme; Freistaat Sachsen; Novo Nordisk Fonden; Universität Leipzig; Novo Nordisk; Jacobs Foundation; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Diabetes UK; Fonds Wetenschappelijk Onderzoek; National Human Genome Research Institute; University of Exeter; Fonds De La Recherche Scientifique - FNRS; Eesti Teadusagentuur; Academy of Finland; Koninklijke Nederlandse Akademie van Wetenschappen; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Cancer Institute; University of Bristol; ZonMw; European Regional Development Fund; Bundesministerium für Bildung und Forschung; National Institute on Aging; NHS Blood and Transplant; National Institute for Health and Care Research; National Institutes of Health; Rosetrees Trust; European Commission; Broad Institute; Universitair Medisch Centrum Groningen; Stichting de Drie Lichten; International Society on Thrombosis and Haemostasis; Leidos; British Heart Foundation; Wellcome Trust; Research England; University of Miami; National Science Foundation","keywords":"Expression quantitative trait loci; Biology; Quantitative trait locus; Genetics; Gene; Phenotype; Transcriptome; Gene expression; Regulation of gene expression; Locus (genetics); Computational biology; Single-nucleotide polymorphism; Genotype","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":[0.0004450881,0.0005235805,0.0004994298,0.00107207,0.000266091,0.0005470464,0.0004453199,0.0003430473,0.002656804],"category_scores_gemma":[0.0005828656,0.0003564726,0.0007059618,0.001163227,0.0004111694,0.0003260986,0.0008085311,0.0008539297,0.0005098971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003118017,"about_ca_system_score_gemma":0.000232695,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00196136,"about_ca_topic_score_gemma":0.005919826,"domain_scores_codex":[0.9996081,0.00003842448,0.00002061995,0.0001824089,0.00009598295,0.00005455363],"domain_scores_gemma":[0.9992626,0.0004307485,0.0001258938,0.00008577194,0.00004187293,0.0000530381],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001994004,0.00002862282,0.01792463,0.00008624305,0.0001863913,0.0002275168,0.0001345148,0.001422627,0.960458,0.001532369,0.000275071,0.01752451],"study_design_scores_gemma":[0.0001361966,0.0002489412,0.6480149,0.00003976196,0.0007819622,0.001161033,0.0002477111,0.03508621,0.2986187,0.007535388,0.007999675,0.0001294539],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9084794,0.001080239,0.0789596,0.0002559492,0.00005561059,0.00002876432,0.008216006,0.0007696913,0.002154713],"genre_scores_gemma":[0.9679582,0.0005291409,0.02251752,0.0003189,0.00003126438,0.00005150797,0.005382511,0.000315719,0.002895197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002656804,"threshold_uncertainty_score":0.008887947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01424160226877394,"score_gpt":0.2769147858145288,"score_spread":0.2626731835457549,"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."}}