Expression quantitative trait locus analysis for translational medicine
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[1] M. DePamphilis,et al. HUMAN DISEASE , 1957, The Ulster Medical Journal.
[2] Alex E. Lash,et al. Gene Expression Omnibus: NCBI gene expression and hybridization array data repository , 2002, Nucleic Acids Res..
[3] R. Stoughton,et al. Genetics of gene expression surveyed in maize, mouse and man , 2003, Nature.
[4] D. Pe’er,et al. Module networks: identifying regulatory modules and their condition-specific regulators from gene expression data , 2003, Nature Genetics.
[5] D. Kleinjan,et al. Long-range control of gene expression: emerging mechanisms and disruption in disease. , 2005, American journal of human genetics.
[6] Pablo Tamayo,et al. Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[7] L. Kruglyak,et al. Genetics of global gene expression , 2006, Nature Reviews Genetics.
[8] Jingyuan Fu,et al. Mapping Determinants of Gene Expression Plasticity by Genetical Genomics in C. elegans , 2006, PLoS genetics.
[9] G. Gibson,et al. Quantitative trait transcripts for nicotine resistance in Drosophila melanogaster , 2007, Nature Genetics.
[10] A. Barabasi,et al. The human disease network , 2007, Proceedings of the National Academy of Sciences.
[11] Helen E. Parkinson,et al. ArrayExpress—a public database of microarray experiments and gene expression profiles , 2006, Nucleic Acids Res..
[12] Francis S. Collins,et al. Identifiability in Genomic Research , 2007, Science.
[13] Francisco S. Roque,et al. A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes , 2008, Proceedings of the National Academy of Sciences.
[14] Joshua M. Korn,et al. Comprehensive genomic characterization defines human glioblastoma genes and core pathways , 2008, Nature.
[15] Scott A. Rifkin,et al. Revealing the architecture of gene regulation: the promise of eQTL studies. , 2008, Trends in genetics : TIG.
[16] Virginia Pascual,et al. A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus. , 2008, Immunity.
[17] Eric E Schadt,et al. Accuracy of Genome-wide Imputation of Untyped Markers and Impacts on Statistical Power for Association Studies , 2009 .
[18] H. Stefánsson,et al. Genetics of gene expression and its effect on disease , 2008, Nature.
[19] N. Schork,et al. Prediction of cancer driver mutations in protein kinases. , 2008, Cancer research.
[20] L. Liang,et al. Mapping complex disease traits with global gene expression , 2009, Nature Reviews Genetics.
[21] L. Hood,et al. Systems medicine: the future of medical genomics and healthcare , 2009, Genome Medicine.
[22] M. Daly,et al. Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions , 2009, PLoS genetics.
[23] Silke Szymczak,et al. Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility , 2010, PloS one.
[24] Olle Melander,et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus , 2010, Nature.
[25] E. Dermitzakis,et al. Candidate Causal Regulatory Effects by Integration of Expression QTLs with Complex Trait Genetic Associations , 2010, PLoS genetics.
[26] N. Cox,et al. Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS , 2010, PLoS genetics.
[27] Tsun-Po Yang,et al. Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies , 2010, Bioinform..
[28] D. Pe’er,et al. An Integrated Approach to Uncover Drivers of Cancer , 2010, Cell.
[29] Sharon R Grossman,et al. Integrating common and rare genetic variation in diverse human populations , 2010, Nature.
[30] Wei Chen,et al. Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in Cis-eqtl Signals , 2022 .
[31] Russell D. Wolfinger,et al. Geographical Genomics of Human Leukocyte Gene Expression Variation in Southern Morocco , 2009, Nature Genetics.
[32] Jacek Majewski,et al. The study of eQTL variations by RNA-seq: from SNPs to phenotypes. , 2011, Trends in genetics : TIG.
[33] M. Daly,et al. Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology , 2011, PLoS genetics.
[34] Alkes L. Price,et al. Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals , 2011, PLoS genetics.
[35] J. Shendure,et al. Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.
[36] Miles Parkes,et al. Gene expression profiling of CD8+ T cells predicts prognosis in patients with Crohn disease and ulcerative colitis. , 2011, The Journal of clinical investigation.
[37] Benjamin J. Raphael,et al. Integrated Genomic Analyses of Ovarian Carcinoma , 2011, Nature.
[38] Bin Zhang,et al. A survey of the genetics of stomach, liver, and adipose gene expression from a morbidly obese cohort. , 2011, Genome research.
[39] Damian Szklarczyk,et al. The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored , 2010, Nucleic Acids Res..
[40] Jingyuan Fu,et al. Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA , 2011, PLoS genetics.
[41] Simon C. Potter,et al. The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study , 2011, PLoS genetics.
[42] F. Vannberg,et al. GENETICS OF GENE EXPRESSION IN PRIMARY IMMUNE CELLS IDENTIFIES CELL-SPECIFIC MASTER REGULATORS AND ROLES OF HLA ALLELES , 2012, Nature Genetics.
[43] P. Deloukas,et al. Patterns of Cis Regulatory Variation in Diverse Human Populations , 2012, PLoS genetics.
[44] Xihong Lin,et al. Population Differences in Transcript-Regulator Expression Quantitative Trait Loci , 2012, PloS one.
[45] Nicholas Eriksson,et al. Comparison of Family History and SNPs for Predicting Risk of Complex Disease , 2012, PLoS genetics.
[46] Simon C. Potter,et al. Mapping cis- and trans-regulatory effects across multiple tissues in twins , 2012, Nature Genetics.
[47] Steven J. M. Jones,et al. Comprehensive molecular characterization of human colon and rectal cancer , 2012, Nature.
[48] P. Awadalla,et al. Evidence for additive and interaction effects of host genotype and infection in malaria , 2012, Proceedings of the National Academy of Sciences.
[49] Joseph B Hiatt,et al. Massively parallel functional dissection of mammalian enhancers in vivo , 2012, Nature Biotechnology.
[50] Matthew Stephens,et al. The Contribution of RNA Decay Quantitative Trait Loci to Inter-Individual Variation in Steady-State Gene Expression Levels , 2012, PLoS genetics.
[51] Data production leads,et al. An integrated encyclopedia of DNA elements in the human genome , 2012 .
[52] P. Visscher,et al. Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. , 2012, Genome research.
[53] P. Visscher,et al. Five years of GWAS discovery. , 2012, American journal of human genetics.
[54] S. Batzoglou,et al. Linking disease associations with regulatory information in the human genome , 2012, Genome research.
[55] Maxwell D. Sanderford,et al. Evolutionary meta-analysis of association studies reveals ancient constraints affecting disease marker discovery. , 2012, Molecular biology and evolution.
[56] Shane J. Neph,et al. Systematic Localization of Common Disease-Associated Variation in Regulatory DNA , 2012, Science.
[57] Greg Gibson,et al. Using Blood Informative Transcripts in Geographical Genomics: Impact of Lifestyle on Gene Expression in Fijians , 2012, Front. Gene..
[58] ENCODEConsortium,et al. An Integrated Encyclopedia of DNA Elements in the Human Genome , 2012, Nature.
[59] John C. Marioni,et al. Deciphering the genetic architecture of variation in the immune response to Mycobacterium tuberculosis infection , 2012, Proceedings of the National Academy of Sciences.
[60] Tanya M. Teslovich,et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes , 2012, Nature Genetics.
[61] David C. Wilson,et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease , 2012, Nature.
[62] Eurie L. Hong,et al. Annotation of functional variation in personal genomes using RegulomeDB , 2012, Genome research.
[63] Ara Darzi,et al. Preparing for precision medicine. , 2012, The New England journal of medicine.
[64] Manolis Kellis,et al. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants , 2011, Nucleic Acids Res..
[65] M. Peters,et al. Systematic identification of trans eQTLs as putative drivers of known disease associations , 2013, Nature Genetics.
[66] Jonathan K. Pritchard,et al. Identification of Genetic Variants That Affect Histone Modifications in Human Cells , 2013, Science.
[67] P. Visscher,et al. Pitfalls of predicting complex traits from SNPs , 2013, Nature Reviews Genetics.
[68] M. Stephens,et al. A Statistical Framework for Joint eQTL Analysis in Multiple Tissues , 2012, PLoS genetics.
[69] Pedro G. Ferreira,et al. Transcriptome and genome sequencing uncovers functional variation in humans , 2013, Nature.
[70] M. Clyde,et al. Functional annotation signatures of disease susceptibility loci improve SNP association analysis , 2013, bioRxiv.
[71] H. Hakonarson,et al. Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel disease. , 2013, American journal of human genetics.
[72] Mathieu Blanchette,et al. The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts , 2014, Genome Biology.
[73] Jong-Keuk Lee,et al. Large-scale profiling and identification of potential regulatory mechanisms for allelic gene expression in colorectal cancer cells. , 2013, Gene.
[74] Greg Gibson,et al. Blood-Informative Transcripts Define Nine Common Axes of Peripheral Blood Gene Expression , 2013, PLoS genetics.
[75] Joseph E. Powell,et al. Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data , 2013, PLoS genetics.
[76] Jonathan K. Pritchard,et al. Primate Transcript and Protein Expression Levels Evolve Under Compensatory Selection Pressures , 2013, Science.
[77] E. Dermitzakis,et al. Genetic and epigenetic regulation of human lincRNA gene expression. , 2013, American journal of human genetics.
[78] Jiang Li,et al. Large Scale Comparison of Gene Expression Levels by Microarrays and RNAseq Using TCGA Data , 2013, PloS one.
[79] Jason M. Torres,et al. Inter-ethnic differences in lymphocyte sensitivity to glucocorticoids reflect variation in transcriptional response , 2011, The Pharmacogenomics Journal.
[80] Jaana M. Hartikainen,et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk , 2013, Nature Genetics.
[81] Leighton J. Core,et al. Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription , 2013, Science.
[82] Jingyuan Fu,et al. Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression , 2013, PLoS genetics.
[83] Ellen T. Gelfand,et al. The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.
[84] Joshua M. Stuart,et al. The Cancer Genome Atlas Pan-Cancer analysis project , 2013, Nature Genetics.
[85] Joseph E. Powell,et al. Detection and replication of epistasis influencing transcription in humans , 2014, Nature.
[86] John D. Blischak,et al. Methylation QTLs Are Associated with Coordinated Changes in Transcription Factor Binding, Histone Modifications, and Gene Expression Levels , 2014, bioRxiv.
[87] M. Peters,et al. Cell specific eQTL analysis without sorting cells , 2014, bioRxiv.
[88] A. Singleton,et al. Genetic variability in the regulation of gene expression in ten regions of the human brain , 2014, Nature Neuroscience.
[89] P. Visscher,et al. Another Explanation for Apparent Epistasis , 2014 .
[90] Daphne Koller,et al. Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes , 2014, Science.
[91] P. Sullivan,et al. Heritability and Genomics of Gene Expression in Peripheral Blood , 2014, Nature Genetics.
[92] Han Xu,et al. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. , 2014, American journal of human genetics.
[93] Richard Durbin,et al. Genetic interactions affecting human gene expression identified by variance association mapping , 2014, eLife.
[94] C. Spencer,et al. Biological Insights From 108 Schizophrenia-Associated Genetic Loci , 2014, Nature.
[95] Daniel J. Gaffney,et al. Genetic Background Drives Transcriptional Variation in Human Induced Pluripotent Stem Cells , 2014, PLoS genetics.
[96] C. Gieger,et al. Mapping the Genetic Architecture of Gene Regulation in Whole Blood , 2014, PloS one.
[97] M. Lupien,et al. Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits , 2014, Genome research.
[98] Manolis Kellis,et al. Common Genetic Variants Modulate Pathogen-Sensing Responses in Human Dendritic Cells , 2014, Science.
[99] G. Gibson. Cancer: Directions for the drivers , 2014, Nature.
[100] John D. Storey,et al. Gene expression profiles associated with acute myocardial infarction and risk of cardiovascular death , 2014, Genome Medicine.
[101] J. Knight,et al. Approaches for establishing the function of regulatory genetic variants involved in disease , 2014, Genome Medicine.
[102] Takahisa Kawaguchi,et al. Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants , 2014, PloS one.
[103] C. Wallace,et al. Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics , 2013, PLoS genetics.
[104] Xavier Solé,et al. Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis. , 2014, Carcinogenesis.
[105] Joseph K. Pickrell. Joint analysis of functional genomic data and genome-wide association studies of 18 human traits , 2013, bioRxiv.
[106] Emmanouil T. Dermitzakis,et al. Putative cis-regulatory drivers in colorectal cancer , 2014, Nature.
[107] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[108] Jun S. Liu,et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery , 2013 .
[109] R. Andrews,et al. Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression , 2014, Science.
[110] Chun Jimmie Ye,et al. Intersection of population variation and autoimmunity genetics in human T cell activation , 2014, Science.
[111] A. Lusis,et al. Systems genetics approaches to understand complex traits , 2013, Nature Reviews Genetics.
[112] Xiaoquan Wen,et al. Cross-Population Joint Analysis of eQTLs: Fine Mapping and Functional Annotation , 2014, bioRxiv.
[113] L. Kruglyak,et al. The role of regulatory variation in complex traits and disease , 2015, Nature Reviews Genetics.
[114] Kristin Reiche,et al. Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci† , 2015, Human molecular genetics.
[115] Jun S. Liu,et al. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans , 2015, Science.
[116] Richard Durbin,et al. Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins , 2014, Nature Genetics.
[117] M. Daly,et al. Genetic and Epigenetic Fine-Mapping of Causal Autoimmune Disease Variants , 2014, Nature.
[118] John Quackenbush,et al. Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci. , 2015, Human molecular genetics.
[119] Jingyuan Fu,et al. Cell Specific eQTL Analysis without Sorting Cells , 2014, bioRxiv.
[120] F. Collins,et al. A new initiative on precision medicine. , 2015, The New England journal of medicine.
[121] Tomas W. Fitzgerald,et al. Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.
[122] Alexis Battle,et al. Impact of regulatory variation from RNA to protein , 2015, Science.
[123] C. Spencer,et al. A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium , 2016, bioRxiv.