Population genomics of human gene expression.
paper
Cited
Public
- Authors
- Stranger, Barbara E; Nica, Alexandra C; Forrest, Matthew S; Dimas, Antigone; Bird, Christine P; Beazley, Claude; Ingle, Catherine E; Dunning, Mark; Flicek, Paul; Koller, Daphne; Montgomery, Stephen; TavarΓ©, Simon; Deloukas, Panos; Dermitzakis, Emmanouil T
- Year
- 2007
- Journal
- Nature genetics
- PMID
- 17873874
- DOI
- 10.1038/ng2142
- PMCID
- PMC2683249
Genetic variation influences gene expression, and this variation in gene expression can be efficiently mapped to specific genomic regions and variants. Here we have used gene expression profiling of Epstein-Barr virus-transformed lymphoblastoid cell lines of all 270 individuals genotyped in the HapMap Consortium to elucidate the detailed features of genetic variation underlying gene expression variation. We find that gene expression is heritable and that differentiation between populations is in agreement with earlier small-scale studies. A detailed association analysis of over 2.2 million common SNPs per population (5% frequency in HapMap) with gene expression identified at least 1,348 genes with association signals in cis and at least 180 in trans. Replication in at least one independent population was achieved for 37% of cis signals and 15% of trans signals, respectively. Our results strongly support an abundance of cis-regulatory variation in the human genome. Detection of trans effects is limited but suggests that regulatory variation may be the key primary effect contributing to phenotypic variation in humans. We also explore several methodologies that improve the current state of analysis of gene expression variation.
Associations of SNPs with gene expression of SPRED2 on chromosome 2. Panels contrast the results obtained using phase I HapMap SNPs and phase II HapMap SNPs. Coordinates are in NCBI Build 35. Blue arrows represent the location (not to scale) and direction of transcription of the associated gene.
Comparison of detected cis associations between single and multi-population analysis. (A) Numbers of genes with significant cis- associations as uncovered by single and multi-population analysis and proportion overlap of associations across the two methodologies. (B) Associations of SNPs of the phase II HapMap with gene expression of SGPP2 on chromosome 2. Coordinates are in NCBI Build 35. Panels show results of 4-population multi-population analysis, and individual population analysis for CEU, CHB, JPT, and YRI. Blue arrows represent the location (not to scale) and direction of transcription of the associated gene. In this case the SNP was not rare in any of the populations (MAF was between 0.08 and 0.44) but the effect was small (R2 = 0.25 and slope = 0.25) so it could only be detected when we pooled the populations increasing the sample size.(C) Comparison of the adjusted R2 values (proportion of the variance in expression explained by the linear relationship between genotype and phenotype) of cis significant associations obtained from single and multi-population analysis (0.001 permutation threshold).
Comparison of the direction of shared SNP-gene allelic effects across all pairs of populations (0.001 permutation threshold). White panels indicate effects in the same direction.
Statistical significance, adjusted R2 of the association (proportion of the expression variance explained by the linear relationship between genotype and phenotype), and absolute value of the slope of the linear regression, as a function of distance from the transcription start site, of the most significantly associated SNP per gene in each of the 4 populations (order CEU, CHB, JPT and YRI) and the pooled sample of all 4 populations.
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| A Cellular GWAS Approach to Define Human Variation in Cellular Pathways Important to Inflammation. | Miller SI et al. | β | 2016 | β |
| A cis-eQTL in AHI1 confers risk to schizophrenia in European populations. | Ren Z et al. | β | 2016 | β |
| Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns. | Cohen T et al. | β | 2016 | β |
| A rare variant at 11p13 is associated with tuberculosis susceptibility in the Han Chinese population. | Chen C et al. | β | 2016 | β |
| Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts? | Fish AE et al. | β | 2016 | β |
| Association of PECAM1/CD31 polymorphisms with cerebral malaria. | Ohashi J et al. | β | 2016 | β |
| Associations of Plasma FGF2 Levels and Polymorphisms in the FGF2 Gene with Obesity Phenotypes in Han Chinese Population. | Hao RH et al. | β | 2016 | β |
| A trans-acting Variant within the Transcription Factor RIM101 Interacts with Genetic Background to Determine its Regulatory Capacity. | Read T et al. | β | 2016 | β |
| Autoimmune diseases - connecting risk alleles with molecular traits of the immune system. | Gutierrez-Arcelus M et al. | β | 2016 | β |
| Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus. | Gabrielsen IS et al. | β | 2016 | β |
| c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians. | Ganesan M et al. | β | 2016 | β |
| Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23. | McGovern A et al. | β | 2016 | β |
| Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder. | Peterson CB et al. | β | 2016 | β |
| Cis-acting single nucleotide polymorphisms alter MicroRNA-mediated regulation of human brain-expressed transcripts. | Ramachandran S et al. | β | 2016 | β |
| Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease. | Yu CH et al. | β | 2016 | β |
| CYP17A1 polymorphisms and clinical outcome of castration-resistant prostate cancer patients treated with abiraterone. | Salvi S et al. | β | 2016 | β |
| Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. | Rothwell S et al. | β | 2016 | β |
| eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene. | Repnik K et al. | β | 2016 | β |
| Expression quantitative trait loci in long non-coding RNA PAX8-AS1 are associated with decreased risk of cervical cancer. | Han J et al. | β | 2016 | β |
| FastLSU: a more practical approach for the Benjamini-Hochberg FDR controlling procedure for huge-scale testing problems. | Madar V et al. | β | 2016 | β |
| Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. | Du M et al. | β | 2016 | β |
| Genetic risk variants for autoimmune diseases that influence gene expression in thymus. | Gabrielsen IS et al. | β | 2016 | β |
| GenomeRunner web server: regulatory similarity and differences define the functional impact of SNP sets. | Dozmorov MG et al. | β | 2016 | β |
| Genome-wide associations for birth weight and correlations with adult disease. | Horikoshi M et al. | β | 2016 | β |
| HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. | Ward LD et al. | β | 2016 | β |
| Hepatitis B virus genotypes, expression quantitative trait loci for ZNRD1-AS1 and their interactions in hepatocellular carcinoma. | Liu Z et al. | β | 2016 | β |
| Hepatitis B virus mutations, expression quantitative trait loci for PTPN12, and their interactions in hepatocellular carcinoma. | Song C et al. | β | 2016 | β |
| High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences. | Rivera NV et al. | β | 2016 | β |
| Human Validation of Genes Associated With a Murine Atherosclerotic Phenotype. | Pasterkamp G et al. | β | 2016 | β |
| Identification of a new locus at 16q12 associated with time to asthma onset. | Sarnowski C et al. | β | 2016 | β |
| Identification of Epigenetic Biomarkers of Lung Adenocarcinoma through Multi-Omics Data Analysis. | Kikutake C et al. | β | 2016 | β |
| Identification of expression quantitative trait loci of RPTOR for susceptibility to glioma. | Huang L et al. | β | 2016 | β |
| Immunochip analysis identifies novel susceptibility loci in the human leukocyte antigen region for acquired thrombotic thrombocytopenic purpura. | Mancini I et al. | β | 2016 | β |
| Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease. | Peters JE et al. | β | 2016 | β |
| Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity. | Sajuthi SP et al. | β | 2016 | β |
| Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits. | Brumpton BM et al. | β | 2016 | β |
| Population-specific genome-wide mapping of expression quantitative trait loci in the colon of Han Chinese. | Guo CC et al. | β | 2016 | β |
| Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorder. | Garcia-MartΓnez I et al. | β | 2016 | β |
| Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing. | Ferreira PG et al. | β | 2016 | β |
| Simul-seq: combined DNA and RNA sequencing for whole-genome and transcriptome profiling. | Reuter JA et al. | β | 2016 | β |
| Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues. | Wheeler HE et al. | β | 2016 | β |
| Tensor decomposition for multiple-tissue gene expression experiments. | Hore V et al. | β | 2016 | β |
| The heritability and patterns of DNA methylation in normal human colorectum. | Rowlatt A et al. | β | 2016 | β |
| Transcriptome, genetic editing, and microRNA divergence substantiate sympatric speciation of blind mole rat, Spalax. | Li K et al. | β | 2016 | β |
| Unravelling the effects of gene flow and selection in highly connected populations of the silver-lip pearl oyster (Pinctada maxima). | Nayfa MG et al. | β | 2016 | β |
| Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. | Finkel TH et al. | β | 2016 | β |
| Aberrant gene expression in humans. | Zeng Y et al. | β | 2015 | β |
| Accurate and fast multiple-testing correction in eQTL studies. | Sul JH et al. | β | 2015 | β |
| A common variant in the CLDN7/ELP5 locus predicts adiponectin change with lifestyle intervention and improved fitness in obese individuals with diabetes. | Belalcazar LM et al. | β | 2015 | β |
| A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure. | Turpeinen H et al. | β | 2015 | β |
| Analysis of genome-wide RNA-sequencing data suggests age of the CEPH/Utah (CEU) lymphoblastoid cell lines systematically biases gene expression profiles. | Yuan Y et al. | β | 2015 | β |
| An ImmunoChip study of multiple sclerosis risk in African Americans. | Isobe N et al. | β | 2015 | β |
| Assessment of the genetic basis of rosacea by genome-wide association study. | Chang ALS et al. | β | 2015 | β |
| Association of genetic variation in IKZF1, ARID5B, and CEBPE and surrogates for early-life infections with the risk of acute lymphoblastic leukemia in Hispanic children. | Hsu LI et al. | β | 2015 | β |
| A systematic heritability analysis of the human whole blood transcriptome. | Huan T et al. | β | 2015 | β |
| Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. | SΓ‘nchez-Mora C et al. | β | 2015 | β |
| Characterization of TCF21 Downstream Target Regions Identifies a Transcriptional Network Linking Multiple Independent Coronary Artery Disease Loci. | Sazonova O et al. | β | 2015 | β |
| Common polygenic variation contributes to risk of migraine in the Norfolk Island population. | Rodriguez-Acevedo AJ et al. | β | 2015 | β |
| Comparative analysis of gene regulatory networks: from network reconstruction to evolution. | Thompson D et al. | β | 2015 | β |
| Conditional entropy in variation-adjusted windows detects selection signatures associated with expression quantitative trait loci (eQTLs). | Handelman SK et al. | β | 2015 | β |
| CTCF-Mediated Human 3D Genome Architecture Reveals Chromatin Topology for Transcription. | Tang Z et al. | β | 2015 | β |
| Detecting Genetic Associations between ATG5 and Lupus Nephritis by trans-eQTL. | Zhang YM et al. | β | 2015 | β |
| Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. | Hulur I et al. | β | 2015 | β |
| eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues. | Huang J et al. | β | 2015 | β |
| Evaluating intra- and inter-individual variation in the human placental transcriptome. | Hughes DA et al. | β | 2015 | β |
| Exploiting genetic variation to discover genes involved in important disease phenotypes. | Capewell P et al. | β | 2015 | β |
| Expression profile of six stress-related genes and productive performances of fast and slow growing broiler strains reared under heat stress conditions. | Rimoldi S et al. | β | 2015 | β |
| Expression quantitative trait loci in long non-coding RNA ZNRD1-AS1 influence both HBV infection and hepatocellular carcinoma development. | Wen J et al. | β | 2015 | β |
| Expression quantitative trait loci in long non-coding RNA ZNRD1-AS1 influence cervical cancer development. | Guo L et al. | β | 2015 | β |
| Fine-mapping the 2q37 and 17q11.2-q22 loci for novel genes and sequence variants associated with a genetic predisposition to prostate cancer. | Laitinen VH et al. | β | 2015 | β |
| Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD. | Ledo N et al. | β | 2015 | β |
| Functional genomics bridges the gap between quantitative genetics and molecular biology. | Lappalainen T | β | 2015 | β |
| Functional mechanisms for type 2 diabetes-associated genetic variants. | Zhu XW et al. | β | 2015 | β |
| Functional relevance for multiple sclerosis-associated genetic variants. | Lin X et al. | β | 2015 | β |
| Genetic analysis identifies DDR2 as a novel gene affecting bone mineral density and osteoporotic fractures in Chinese population. | Guo Y et al. | β | 2015 | β |
| Genetic basis of autoimmunity. | Marson A et al. | β | 2015 | β |
| Genetic basis of transcriptome diversity in Drosophila melanogaster. | Huang W et al. | β | 2015 | β |
| Genetics of allergic diseases. | Ortiz RA et al. | β | 2015 | β |
| Genome-wide analysis of the genetic regulation of gene expression in human neutrophils. | Andiappan AK et al. | β | 2015 | β |
| Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. | Danjou F et al. | β | 2015 | β |
| Genome-wide association study identifies peanut allergy-specific loci and evidence of epigenetic mediation in US children. | Hong X et al. | β | 2015 | β |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. | Lu X et al. | β | 2015 | β |
| Genome-wide association study of warfarin maintenance dose in a Brazilian sample. | Parra EJ et al. | β | 2015 | β |
| Genome-wide epistatic expression quantitative trait loci discovery in four human tissues reveals the importance of local chromosomal interactions governing gene expression. | Fitzpatrick DJ et al. | β | 2015 | β |
| Genome-wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations. | Yang TL et al. | β | 2015 | β |
| Genomic modulators of gene expression in human neutrophils. | Naranbhai V et al. | β | 2015 | β |
| High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. | Kim K et al. | β | 2015 | β |
| HLA-DRA rs3129882 A/G polymorphism was not a risk factor for Parkinson's disease in Chinese-based populations: a meta-analysis. | Ma ZG et al. | β | 2015 | β |
| Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set. | Thibodeau SN et al. | β | 2015 | β |
| ImmVar project: Insights and design considerations for future studies of "healthy" immune variation. | De Jager PL et al. | β | 2015 | β |
| Integrating mRNA and miRNA Weighted Gene Co-Expression Networks with eQTLs in the Nucleus Accumbens of Subjects with Alcohol Dependence. | Mamdani M et al. | β | 2015 | β |
| Integrative network analysis reveals different pathophysiological mechanisms of insulin resistance among Caucasians and African Americans. | Das SK et al. | β | 2015 | β |
| In vitro human cell line models to predict clinical response to anticancer drugs. | Niu N et al. | β | 2015 | β |
| Long noncoding RNAs in hepatocellular carcinoma: Novel insights into their mechanism. | Liu YR et al. | β | 2015 | β |
| Molecular Characterization of the NLRC4 Expression in Relation to Interleukin-18 Levels. | Zeller T et al. | β | 2015 | β |
| Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption. | Ye K et al. | β | 2015 | β |
| NLRC4 Inflammasome Is an Important Regulator of Interleukin-18 Levels in Patients With Acute Coronary Syndromes: Genome-Wide Association Study in the PLATelet inhibition and patient Outcomes Trial (PLATO). | Johansson Γ et al. | β | 2015 | β |
| Pharmacoethnicity in Paclitaxel-Induced Sensory Peripheral Neuropathy. | Komatsu M et al. | β | 2015 | β |
| Phenotype-Dependent Coexpression Gene Clusters: Application to Normal and Premature Ageing. | Wang K et al. | β | 2015 | β |
| Polymorphisms in Genes Involved in EGFR Turnover Are Predictive for Cetuximab Efficacy in Colorectal Cancer. | Stintzing S et al. | β | 2015 | β |
| Quantitative variability of 342 plasma proteins in a human twin population. | Liu Y et al. | β | 2015 | β |
| QuASAR: quantitative allele-specific analysis of reads. | Harvey CT et al. | β | 2015 | β |
| Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. | Timofeeva MN et al. | β | 2015 | β |
| Robust Linear Models for Cis-eQTL Analysis. | Rantalainen M et al. | β | 2015 | β |
| Signature of positive selection of PTK6 gene in East Asian populations: a cross talk for Helicobacter pylori invasion and gastric cancer endemicity. | Jha P et al. | β | 2015 | β |
| The genetic and mechanistic basis for variation in gene regulation. | Pai AA et al. | β | 2015 | β |
| The impact of host genetic variation on infection with HIV-1. | McLaren PJ et al. | β | 2015 | β |
| The role of regulatory variation in complex traits and disease. | Albert FW et al. | β | 2015 | β |
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. | Gutierrez-Arcelus M et al. | β | 2015 | β |
| Transcriptome of the human retina, retinal pigmented epithelium and choroid. | Tian L et al. | β | 2015 | β |
| UBE2L3 polymorphism amplifies NF-ΞΊB activation and promotes plasma cell development, linking linear ubiquitination to multiple autoimmune diseases. | Lewis MJ et al. | β | 2015 | β |
| A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death. | Salinas RE et al. | β | 2014 | β |
| Additive, epistatic, and environmental effects through the lens of expression variability QTL in a twin cohort. | Wang G et al. | β | 2014 | β |
| A functional polymorphism of the GTP cyclohydrolase 1 gene predicts attention performance. | Yasuda Y et al. | β | 2014 | β |
| A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese. | Liu Y et al. | β | 2014 | β |
| Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies. | Panousis NI et al. | β | 2014 | β |
| Alzheimer's disease susceptibility variants in the MS4A6A gene are associated with altered levels of MS4A6A expression in blood. | Proitsi P et al. | β | 2014 | β |
| A meta-analysis of gene expression quantitative trait loci in brain. | Kim Y et al. | β | 2014 | β |
| Applying genome-wide gene-based expression quantitative trait locus mapping to study population ancestry and pharmacogenetics. | Yang HC et al. | β | 2014 | β |
| A replication study confirms the association of GWAS-identified SNPs at MICB and PLCE1 in Thai patients with dengue shock syndrome. | Dang TN et al. | β | 2014 | β |
| Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. | Cornes BK et al. | β | 2014 | β |
| A three-stage genome-wide association study combining multilocus test and gene expression analysis for young-onset hypertension in Taiwan Han Chinese. | Chiang KM et al. | β | 2014 | β |
| BAYESIAN METHODS FOR GENETIC ASSOCIATION ANALYSIS WITH HETEROGENEOUS SUBGROUPS: FROM META-ANALYSES TO GENE-ENVIRONMENT INTERACTIONS. | Wen X et al. | β | 2014 | β |
| Characterization of genome-methylome interactions in 22 nuclear pedigrees. | Plongthongkum N et al. | β | 2014 | β |
| Cis and trans effects of human genomic variants on gene expression. | Bryois J et al. | β | 2014 | β |
| Cis-regulatory variation: significance in biomedicine and evolution. | Friedensohn S et al. | β | 2014 | β |
| Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits. | Corradin O et al. | β | 2014 | β |
| Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseases. | Maranville JC et al. | β | 2014 | β |
| Common genetic variants modulate pathogen-sensing responses in human dendritic cells. | Lee MN et al. | β | 2014 | β |
| Discovery and validation of new potential biomarkers for early detection of colon cancer. | SolΓ© X et al. | β | 2014 | β |
| Effectively identifying regulatory hotspots while capturing expression heterogeneity in gene expression studies. | Joo JW et al. | β | 2014 | β |
| Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. | Ganesh SK et al. | β | 2014 | β |
| Epigenetic modifications are associated with inter-species gene expression variation in primates. | Zhou X et al. | β | 2014 | β |
| Evaluation of SLE Susceptibility Genes in Malaysians. | Molineros JE et al. | β | 2014 | β |
| Expression quantitative trait analyses to identify causal genetic variants for type 2 diabetes susceptibility. | Das SK et al. | β | 2014 | β |
| Fine mapping of type 2 diabetes susceptibility loci. | Morris AP | β | 2014 | β |
| From genome to function by studying eQTLs. | Westra HJ et al. | β | 2014 | β |
| Gene age predicts the strength of purifying selection acting on gene expression variation in humans. | Popadin KY et al. | β | 2014 | β |
| Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. | Tragante V et al. | β | 2014 | β |
| Gene expression and genetic variation in human atria. | Lin H et al. | β | 2014 | β |
| Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. | Rueedi R et al. | β | 2014 | β |
| Genome-wide eQTLs and heritability for gene expression traits in unrelated individuals. | Yang S et al. | β | 2014 | β |
| Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart. | Koopmann TT et al. | β | 2014 | β |
| Genome wide meta-analysis highlights the role of genetic variation in RARRES2 in the regulation of circulating serum chemerin. | TΓΆnjes A et al. | β | 2014 | β |
| Genomics of alternative splicing: evolution, development and pathophysiology. | Gamazon ER et al. | β | 2014 | β |
| High-allelic variability in HLA-C mRNA expression: association with HLA-extended haplotypes. | Bettens F et al. | β | 2014 | β |
| Higher-order chromatin domains link eQTLs with the expression of far-away genes. | Duggal G et al. | β | 2014 | β |
| Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels. | Hause RJ et al. | β | 2014 | β |
| Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity. | LaCroix B et al. | β | 2014 | β |
| Integrative genomic analysis for the discovery of biomarkers in prostate cancer. | Hicks C et al. | β | 2014 | β |
| Integrative genomics of chronic obstructive pulmonary disease. | Hobbs BD et al. | β | 2014 | β |
| Interindividual variation in human T regulatory cells. | Ferraro A et al. | β | 2014 | β |
| Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. | Narahara M et al. | β | 2014 | β |
| Linking polymorphic p53 response elements with gene expression in airway epithelial cells of smokers and cancer risk. | Wang X et al. | β | 2014 | β |
| Mapping the genetic architecture of gene regulation in whole blood. | Schramm K et al. | β | 2014 | β |
| Mediation analysis demonstrates that trans-eQTLs are often explained by cis-mediation: a genome-wide analysis among 1,800 South Asians. | Pierce BL et al. | β | 2014 | β |
| Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. | Wen W et al. | β | 2014 | β |
| Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels. | Banovich NE et al. | β | 2014 | β |
| Network-based identification of biomarkers coexpressed with multiple pathways. | Guo NL et al. | β | 2014 | β |
| Novel genetic approach to investigate the role of plasma secretory phospholipase A2 (sPLA2)-V isoenzyme in coronary heart disease: modified Mendelian randomization analysis using PLA2G5 expression levels. | Holmes MV et al. | β | 2014 | β |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. | Perry JR et al. | β | 2014 | β |
| Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. | Postmus I et al. | β | 2014 | β |
| Population-level expression variability of mitochondrial DNA-encoded genes in humans. | Wang G et al. | β | 2014 | β |
| Predicting DNA methylation level across human tissues. | Ma B et al. | β | 2014 | β |
| Protein quantitative trait loci identify novel candidates modulating cellular response to chemotherapy. | Stark AL et al. | β | 2014 | β |
| Proteome variance differences within populations of European whitefish (Coregonus lavaretus) originating from contrasting salinity environments. | Papakostas S et al. | β | 2014 | β |
| Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association. | Ding Z et al. | β | 2014 | β |
| Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. | Auer PL et al. | β | 2014 | β |
| rSNPBase: a database for curated regulatory SNPs. | Guo L et al. | β | 2014 | β |
| RTeQTL: Real-Time Online Engine for Expression Quantitative Trait Loci Analyses. | Ma B et al. | β | 2014 | β |
| Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs. | Enroth S et al. | β | 2014 | β |
| Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. | Zhang X et al. | β | 2014 | β |
| Systematic genetic analysis identifies Cis-eQTL target genes associated with glioblastoma patient survival. | Chen QR et al. | β | 2014 | β |
| The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors. | Quigley DA et al. | β | 2014 | β |
| The effect of freeze-thaw cycles on gene expression levels in lymphoblastoid cell lines. | ΓalΔ±Εkan M et al. | β | 2014 | β |
| The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. | Thompson PM et al. | β | 2014 | β |
| The functional significance of common polymorphisms in zinc finger transcription factors. | Lockwood SH et al. | β | 2014 | β |
| The impact of microRNA expression on cellular proliferation. | Lenkala D et al. | β | 2014 | β |
| The marriage of quantitative genetics and cell biology: a novel screening approach reveals people have genetically encoded variation in microtubule stability. | Ko DC et al. | β | 2014 | β |
| The potential of SLC6A4 gene methylation analysis for the diagnosis and treatment of major depression. | Okada S et al. | β | 2014 | β |
| The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts. | Wagner JR et al. | β | 2014 | β |
| Top associated SNPs in prostate cancer are significantly enriched in cis-expression quantitative trait loci and at transcription factor binding sites. | Jiang J et al. | β | 2014 | β |
| Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture. | Martin AR et al. | β | 2014 | β |
| Trans-ethnic meta-analysis of white blood cell phenotypes. | Keller MF et al. | β | 2014 | β |
| Variants at IRX4 as prostate cancer expression quantitative trait loci. | Xu X et al. | β | 2014 | β |
| Whole blood gene expression and atrial fibrillation: the Framingham Heart Study. | Lin H et al. | β | 2014 | β |
| A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines. | Liang L et al. | β | 2013 | β |
| Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding. | Luca F et al. | β | 2013 | β |
| Analysis of Patterns of Gene Expression Variation within and between Ethnic Populations in Pediatric B-ALL. | Hicks C et al. | β | 2013 | β |
| An enzyme that inactivates the inflammatory mediator leukotriene b4 restricts mycobacterial infection. | Tobin DM et al. | β | 2013 | β |
| A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease. | AlarcΓ³n MA et al. | β | 2013 | β |
| A post-GWAS replication study confirming the PTK2 gene associated with milk production traits in Chinese Holstein. | Wang H et al. | β | 2013 | β |
| Association of an activity-enhancing variant of IRAK1 and an MECP2-IRAK1 haplotype with increased susceptibility to rheumatoid arthritis. | Han TU et al. | β | 2013 | β |
| Association of Parkinson disease with structural and regulatory variants in the HLA region. | Wissemann WT et al. | β | 2013 | β |
| A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. | Mangravite LM et al. | β | 2013 | β |
| A statistical framework for joint eQTL analysis in multiple tissues. | Flutre T et al. | β | 2013 | β |
| Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome. | Nica AC et al. | β | 2013 | β |
| Chapter 15: disease gene prioritization. | Bromberg Y | β | 2013 | β |
| Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. | van Meurs JB et al. | β | 2013 | β |
| Common risk alleles for inflammatory diseases are targets of recent positive selection. | Raj T et al. | β | 2013 | β |
| Comprehensive functional annotation of seventy-one breast cancer risk Loci. | Rhie SK et al. | β | 2013 | β |
| Detecting regulatory gene-environment interactions with unmeasured environmental factors. | Fusi N et al. | β | 2013 | β |
| Effectively identifying eQTLs from multiple tissues by combining mixed model and meta-analytic approaches. | Sul JH et al. | β | 2013 | β |
| Efficiently identifying significant associations in genome-wide association studies. | Kostem E et al. | β | 2013 | β |
| Emerging trends in G-quadruplex biology--role in epigenetic and evolutionary events. | Baral A et al. | β | 2013 | β |
| eQTL Epistasis - Challenges and Computational Approaches. | Huang Y et al. | β | 2013 | β |
| eQTL Mapping Using RNA-seq Data. | Sun W et al. | β | 2013 | β |
| Expression quantitative trait loci analysis identifies associations between genotype and gene expression in human intestine. | Kabakchiev B et al. | β | 2013 | β |
| Expression quantitative trait loci: present and future. | Nica AC et al. | β | 2013 | β |
| Extensive variation in chromatin states across humans. | Kasowski M et al. | β | 2013 | β |
| Functional relevance for associations between genetic variants and systemic lupus erythematosus. | Deng FY et al. | β | 2013 | β |
| Genetic and epigenetic regulation of human lincRNA gene expression. | Popadin K et al. | β | 2013 | β |
| Genetic and epigenetic variants contributing to clofarabine cytotoxicity. | Eadon MT et al. | β | 2013 | β |
| Genetic control of primary microRNA insight into cis- and trans-regulatory variations by RNA-seq. | Zhang S et al. | β | 2013 | β |
| Genetic mapping with multiple levels of phenotypic information reveals determinants of lymphocyte glucocorticoid sensitivity. | Maranville JC et al. | β | 2013 | β |
| Genetics of human gene expression. | Stranger BE et al. | β | 2013 | β |
| Genetic variants contribute to gene expression variability in humans. | Hulse AM et al. | β | 2013 | β |
| Genome and transcriptome analyses provide insight into the euryhaline adaptation mechanism of Crassostrea gigas. | Meng J et al. | β | 2013 | β |
| Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. | Kiefer AK et al. | β | 2013 | β |
| Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis. | Cui J et al. | β | 2013 | β |
| Genome-wide association study identifies a novel susceptibility locus at 12q23.1 for lung squamous cell carcinoma in han chinese. | Dong J et al. | β | 2013 | β |
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| Insights into the regulation of human CNV-miRNAs from the view of their target genes. | Wu X et al. | β | 2012 | β |
| Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. | Chasman DI et al. | β | 2012 | β |
| Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. | Hernandez DG et al. | β | 2012 | β |
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| Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. | Okada Y et al. | β | 2012 | β |
| Meta-analysis identifies six new susceptibility loci for atrial fibrillation. | Ellinor PT et al. | β | 2012 | β |
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| A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. | Coronary Artery Disease (C4D) Genetics Consortium | β | 2011 | β |
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