{"id":"W1843990841","doi":"10.1126/science.1261877","title":"Effect of predicted protein-truncating genetic variants on the human transcriptome","year":2015,"lang":"en","type":"article","venue":"Science","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":345,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"U.S. National Library of Medicine; National Institute of General Medical Sciences; National Cancer Institute; National Institute on Drug Abuse; National Institute of Diabetes and Digestive and Kidney Diseases; Biotechnology and Biological Sciences Research Council; Natural Sciences and Engineering Research Council of Canada; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Institutes of Health; National Institute of Mental Health; National Heart, Lung, and Blood Institute; U.S. Department of Defense; Louis-Jeantet Foundation; Academy of Finland; H2020 European Research Council; University of Oxford; National Human Genome Research Institute; Wellcome Trust; Wellcome","keywords":"Biology; Genetic variation; Gene; Genetics; Transcriptome; Gene expression; Expression quantitative trait loci; Genotype; Regulation of gene expression; Protein expression; Phenotype; Single-nucleotide polymorphism","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009365857744404576,"score_gpt":0.2473512028219515,"score_spread":0.2379853450775469,"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."}}