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.
β Prev
21β39 of 39
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Cingulate atrophy as a shared structural basis for cognitive and functional brain impairments in GAD, PD, and OCD: Links to shared gene expression and treatment implications. | Yan H et al. | β | 2026 | β |
| Cross-Ancestry Polygenic Prediction: Comparing Methods and Assessing Transferability Across Traits. | Momin MM et al. | β | 2026 | β |
| Guiding eQTL mapping and genomic prediction of gene expression in three pig breeds with tissue-specific epigenetic annotations from early development. | Mollandin F et al. | β | 2026 | β |
| Prenatal metal exposure moderates the effect of CRH-related DNA methylation in the placenta on infant communication outcomes at 2 months of age. | Du S et al. | β | 2026 | β |
| Altered hemispheric lateralization of cortico-basal ganglia-thalamic network associated with gene expression and neurotransmitter profiles as potential biomarkers for panic disorder. | Han Y et al. | β | 2025 | β |
| Decoding the striatum of drug-naive patients with obsessive-compulsive disorder: a transcriptome and longitudinal functional magnetic resonance imaging study. | Han Y et al. | β | 2025 | β |
| Dysregulated Gene Expression: A Candidate Mechanism for Anxiety Disorders. | Traenkner D et al. | β | 2025 | β |
| Evolution of Dosage-Sensitive Genes by Tissue-Restricted Expression Changes. | Rice AM et al. | β | 2025 | β |
| Expression quantitative trait loci (eQTL): from population genetics to precision medicine. | Wong ZQ et al. | β | 2025 | β |
| Integrative Genomics Refines Tissues, Candidate Genes and Putative Regulatory Links Involved in the Humic Adaptation of Keystone Freshwater Fish. | Ozerov MY et al. | β | 2025 | β |
| Peripheral blood RNA biomarkers can predict lesion severity in degenerative cervical myelopathy. | Zheng Z et al. | β | 2025 | β |
| PKCΞ΄ Germline Variants and Genetic Deletion in Mice Augment Antitumor Immunity through Regulation of Myeloid Cells. | Cron KR et al. | β | 2025 | β |
| Predicted deleterious mutations reveal the genetic architecture of male reproductive success in a lekking bird. | Chen RS et al. | β | 2025 | β |
| Saturating the eQTL map in Drosophila: Genome-wide patterns of cis and trans regulation of transcriptional variation in outbred populations. | Pallares LF et al. | β | 2025 | β |
| Unveiling regulatory variants in the blood transcriptome and their association with immunity traits in pigs. | JovΓ©-JuncΓ T et al. | β | 2025 | β |
| Weighted Trigonometric Regression for Suboptimal Designs in Circadian Transcriptome Studies. | Gorczyca MT et al. | β | 2025 | β |
| Cerebellar functional connectivity and its associated genes: A longitudinal study in drug-naive patients with obsessive-compulsive disorder. | Yan H et al. | β | 2024 | β |
| Combined Genetic Association and Differed Expression Analysis of <i>UBE2L3</i> Uncovers a Genetic Regulatory Role of (Immuno)proteasome in IgA Nephropathy. | Xu LL et al. | β | 2024 | β |
| Comparison of cell type and disease subset chromatin modifications in SLE. | Beigel K et al. | β | 2024 | β |
| How brain structure-function decoupling supports individual cognition and its molecular mechanism. | Dong X et al. | β | 2024 | β |
| Imputation of 3D genome structure by genetic-epigenetic interaction modeling in mice. | Kuffler L et al. | β | 2024 | β |
| Removing unwanted variation between samples in Hi-C experiments. | Fletez-Brant K et al. | β | 2024 | β |
| Translational bioinformatics approach to combat cardiovascular disease and cancers. | Shahjahan et al. | β | 2024 | β |
| Association between gene expression and altered resting-state functional networks in type 2 diabetes. | Zhang Y et al. | β | 2023 | β |
| Associative gene networks reveal novel candidates important for ADHD and dyslexia comorbidity. | Hongyao HE et al. | β | 2023 | β |
| Comparative Genomic and Transcriptomic Analyses Reveal the Impacts of Genetic Admixture in Kazaks, Uyghurs, and Huis. | Pan Y et al. | β | 2023 | β |
| Effect of tissue-grouped regulatory variants associated to type 2 diabetes in related secondary outcomes. | Hemerich D et al. | β | 2023 | β |
| Evidence for Epistatic Interaction between <i>HLA-G</i> and <i>LILRB1</i> in the Pathogenesis of Nonsegmental Vitiligo. | Oliveira-Caramez ML et al. | β | 2023 | β |
| Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI. | Gaebler AJ et al. | β | 2023 | β |
| Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation. | Martin-Trujillo A et al. | β | 2023 | β |
| Genome-wide expression QTL mapping reveals the highly dynamic regulatory landscape of a major wheat pathogen. | Abraham LN et al. | β | 2023 | β |
| Global Analysis of Transcription Start Sites and Enhancers in Endometrial Stromal Cells and Differences Associated with Endometriosis. | Marla S et al. | β | 2023 | β |
| Identification of a RAD51B enhancer variant for susceptibility and progression to glioma. | Huang L et al. | β | 2023 | β |
| MATS: a novel multi-ancestry transcriptome-wide association study to account for heterogeneity in the effects of cis-regulated gene expression on complex traits. | Knutson KA et al. | β | 2023 | β |
| Mixture prior for sparse signals with dependent covariance structure. | Wang L et al. | β | 2023 | β |
| Predicting ExWAS findings from GWAS data: a shorter path to causal genes. | Liang KYH et al. | β | 2023 | β |
| Single-cell genomics meets human genetics. | Cuomo ASE et al. | β | 2023 | β |
| The role and risks of selective adaptation in extreme coral habitats. | Scucchia F et al. | β | 2023 | β |
| Diverse environmental perturbations reveal the evolution and context-dependency of genetic effects on gene expression levels. | Lea AJ et al. | β | 2022 | β |
| Functional Characterization of Genetic Variant Effects on Expression. | Flynn ED et al. | β | 2022 | β |
| Genes and elements involved in the regulation of the nervous system and growth affect the development of spinal deformity in Cyprinus carpio. | Bagi Z et al. | β | 2022 | β |
| Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population. | Sonehara K et al. | β | 2022 | β |
| Genome-wide imputed differential expression enrichment analysis identifies trait-relevant tissues. | Ghaffar A et al. | β | 2022 | β |
| Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application. | Wang M et al. | β | 2022 | β |
| Human genetic diversity regulating the <i>TLR10/TLR1/TLR6</i> locus confers increased cytokines in response to <i>Chlamydia trachomatis</i>. | Barnes AB et al. | β | 2022 | β |
| Identification of transcriptional regulatory variants in pig duodenum, liver, and muscle tissues. | Crespo-Piazuelo D et al. | β | 2022 | β |
| Independent phenotypic plasticity axes define distinct obesity sub-types. | Yang CH et al. | β | 2022 | β |
| Infection outcome needs two to tango: human host and the pathogen. | Maurya R et al. | β | 2022 | β |
| Integrative multi-omics database (iMOMdb) of Asian pregnant women. | Pan H et al. | β | 2022 | β |
| Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis. | Pudjihartono M et al. | β | 2022 | β |
| Molecular Quantitative Trait Locus Mapping in Human Complex Diseases. | Olayinka OA et al. | β | 2022 | β |
| Multi-omic strategies applied to the study of pharmacoresistance in mesial temporal lobe epilepsy. | Bruxel EM et al. | β | 2022 | β |
| Rs6757 in microRNA-3976 binding site of CD147 confers risk of hepatocellular carcinoma in South Chinese population. | Guo F et al. | β | 2022 | β |
| Scalable Functional Assays for the Interpretation of Human Genetic Variation. | Tabet D et al. | β | 2022 | β |
| The missing link between genetic association and regulatory function. | Connally NJ et al. | β | 2022 | β |
| Transcriptional dynamics of colorectal cancer risk associated variation at 11q23.1 correlate with tuft cell abundance and marker expression in silico. | Harris BT et al. | β | 2022 | β |
| An insertion variant of MGMT disrupts a STAT1 binding site and confers susceptibility to glioma. | Huang L et al. | β | 2021 | β |
| Correlation between cortical gene expression and resting-state functional network centrality in healthy young adults. | Zhu D et al. | β | 2021 | β |
| Detection of quantitative trait loci from RNA-seq data with or without genotypes using BaseQTL. | Vigorito E et al. | β | 2021 | β |
| Gene networks and pathways for plasma lipid traits via multitissue multiomics systems analysis. | Blencowe M et al. | β | 2021 | β |
| Genetic control of the human brain proteome. | Robins C et al. | β | 2021 | β |
| Integrating genome-wide association and transcriptome prediction model identifies novel target genes for osteoporosis. | Zhu M et al. | β | 2021 | β |
| It's in Our Blood: A Glimpse of Personalized Medicine. | Lamb JR et al. | β | 2021 | β |
| Molecular characterisation of osteoblasts from bone obtained from people of Polynesian and European ancestry undergoing joint replacement surgery. | Naot D et al. | β | 2021 | β |
| Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness. | Antoniali D et al. | β | 2021 | β |
| MRLocus: Identifying causal genes mediating a trait through Bayesian estimation of allelic heterogeneity. | Zhu A et al. | β | 2021 | β |
| Multi-omics in mesial temporal lobe epilepsy with hippocampal sclerosis: Clues into the underlying mechanisms leading to disease. | Bruxel EM et al. | β | 2021 | β |
| Natural variation of the cardiac transcriptome in humans. | Domitrovic T et al. | β | 2021 | β |
| Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression. | Garg P et al. | β | 2021 | β |
| Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning. | Kolosov N et al. | β | 2021 | β |
| Systems biology in cardiovascular disease: a multiomics approach. | Joshi A et al. | β | 2021 | β |
| The missing link between genetic association and regulatory function | Connally N et al. | β | 2021 | β |
| The New Kid on the Block: HLA-C, a Key Regulator of Natural Killer Cells in Viral Immunity. | Vollmers S et al. | β | 2021 | β |
| The Vital Role of Central Executive Network in Brain Age: Evidence From Machine Learning and Transcriptional Signatures. | Fang K et al. | β | 2021 | β |
| Transcriptional Regulation of <i>RUNX1</i>: An Informatics Analysis. | Thomas AL et al. | β | 2021 | β |
| Variation of microRNA expression in the human placenta driven by population identity and sex of the newborn. | Guo S et al. | β | 2021 | β |
| Bayesian network analysis of plasma microRNA sequencing data in patients with venous thrombosis. | Thibord F et al. | β | 2020 | β |
| Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality. | So J et al. | β | 2020 | β |
| Combinatorial and statistical prediction of gene expression from haplotype sequence. | Alpay BA et al. | β | 2020 | β |
| Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms. | Uechi L et al. | β | 2020 | β |
| DNA methylation and cis-regulation of gene expression by prostate cancer risk SNPs. | Dai JY et al. | β | 2020 | β |
| Genetic Architecture of Gene Expression in European and African Americans: An eQTL Mapping Study in GENOA. | Shang L et al. | β | 2020 | β |
| Human In Vitro Models for Assessing the Genomic Basis of Chemotherapy-Induced Cardiovascular Toxicity. | Pinheiro EA et al. | β | 2020 | β |
| Identification of eQTLs and sQTLs associated with meat quality in beef. | Leal-GutiΓ©rrez JD et al. | β | 2020 | β |
| Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression. | Peng T et al. | β | 2020 | β |
| Molecular mechanisms of coronary disease revealed using quantitative trait loci for TCF21 binding, chromatin accessibility, and chromosomal looping. | Zhao Q et al. | β | 2020 | β |
| On the cross-population generalizability of gene expression prediction models. | Keys KL et al. | β | 2020 | β |
| Pan-cancer analysis of whole genomes. | ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium | β | 2020 | β |
| Population-Specific Genetic and Expression Differentiation in Europeans. | Jiang X et al. | β | 2020 | β |
| Quantitative genetic analysis deciphers the impact of cis and trans regulation on cell-to-cell variability in protein expression levels. | Morgan MD et al. | β | 2020 | β |
| Regulatory annotation of genomic intervals based on tissue-specific expression QTLs. | Xu T et al. | β | 2020 | β |
| The pathogenesis of systemic lupus erythematosus: Harnessing big data to understand the molecular basis of lupus. | Catalina MD et al. | β | 2020 | β |
| The single-cell eQTLGen consortium. | van der Wijst M et al. | β | 2020 | β |
| Allele-specific expression identified rs2509956 as a novel long-distance <i>cis</i>-regulatory SNP for <i>SCGB1A1</i>, an important gene for multiple pulmonary diseases. | Li XX et al. | β | 2019 | β |
| Altered microRNA 5692b and microRNA let-7d expression levels in children and adolescents with attention deficit hyperactivity disorder. | Aydin SU et al. | β | 2019 | β |
| Ancestry patterns inferred from massive RNA-seq data. | Barral-Arca R et al. | β | 2019 | β |
| Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene. | Zaouak A et al. | β | 2019 | β |
| Dynamic modelling of an ACADS genotype in fatty acid oxidation - Application of cellular models for the analysis of common genetic variants. | Matejka K et al. | β | 2019 | β |
| Evidence for Weak Selective Constraint on Human Gene Expression. | Glassberg EC et al. | β | 2019 | β |
| Expression QTL (eQTLs) Analyses Reveal Candidate Genes Associated With Fruit Flesh Softening Rate in Peach [<i>Prunus persica</i> (L.) Batsch]. | Carrasco-Valenzuela T et al. | β | 2019 | β |
| Expression Quantitative Trait Loci in Equine Skeletal Muscle Reveals Heritable Variation in Metabolism and the Training Responsive Transcriptome. | Farries G et al. | β | 2019 | β |
| Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. | Walker RL et al. | β | 2019 | β |
| Genetic regulation of gene expression and splicing during a 10-year period of human aging. | Balliu B et al. | β | 2019 | β |
| Genome-Wide Genotype-Expression Relationships Reveal Both Copy Number and Single Nucleotide Differentiation Contribute to Differential Gene Expression between Stickleback Ecotypes. | Huang Y et al. | β | 2019 | β |
| Imputed gene associations identify replicable trans-acting genes enriched in transcription pathways and complex traits. | Wheeler HE et al. | β | 2019 | β |
| Informing disease modelling with brain-relevant functional genomic annotations. | Reynolds RH et al. | β | 2019 | β |
| Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci. | Sieber KB et al. | β | 2019 | β |
| Integrative Genomics Analysis Unravels Tissue-Specific Pathways, Networks, and Key Regulators of Blood Pressure Regulation. | Zhao Y et al. | β | 2019 | β |
| Interpreting Coronary Artery Disease Risk Through Gene-Environment Interactions in Gene Regulation. | Findley AS et al. | β | 2019 | β |
| Mapping causal pathways from genetics to neuropsychiatric disorders using genome-wide imaging genetics: Current status and future directions. | Le BD et al. | β | 2019 | β |
| Mechanisms of immunogenicity in colorectal cancer. | Sillo TO et al. | β | 2019 | β |
| Multi-omics integrative analysis identified SNP-methylation-mRNA: Interaction in peripheral blood mononuclear cells. | Lu YH et al. | β | 2019 | β |
| Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. | International Multiple Sclerosis Genetics Consortium | β | 2019 | β |
| "My Daughter Has Thin and Short Hair". | Zaouak A et al. | β | 2019 | β |
| Novel hypotheses emerging from GWAS in migraine? | van den Maagdenberg AMJM et al. | β | 2019 | β |
| Population Genomic Approaches for Weed Science. | Martin SL et al. | β | 2019 | β |
| Postmortem brain tissue as an underutilized resource to study the molecular pathology of neuropsychiatric disorders across different ethnic populations. | Vornholt E et al. | β | 2019 | β |
| ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci. | Stacey D et al. | β | 2019 | β |
| SAMD9 is a (epi-) genetically regulated anti-inflammatory factor activated in RA patients. | He P et al. | β | 2019 | β |
| Single-cell RNA sequencing of a European and an African lymphoblastoid cell line. | Osorio D et al. | β | 2019 | β |
| The role of sex in the genomics ofΒ human complex traits. | Khramtsova EA et al. | β | 2019 | β |
| A computational framework for predicting obesity risk based on optimizing and integrating genetic risk score and gene expression profiles. | Joseph PV et al. | β | 2018 | β |
| A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. | Strunz T et al. | β | 2018 | β |
| An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. | Wang L et al. | β | 2018 | β |
| A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. | Skorecki KL et al. | β | 2018 | β |
| Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes. | Jin Y et al. | β | 2018 | β |
| ARE DISCOVERIES SPURIOUS? DISTRIBUTIONS OF MAXIMUM SPURIOUS CORRELATIONS AND THEIR APPLICATIONS. | Fan J et al. | β | 2018 | β |
| Association studies of WD repeat domain 3 and chitobiosyldiphosphodolichol beta-mannosyltransferase genes with schizophrenia in a Japanese population. | Kobayashi M et al. | β | 2018 | β |
| BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. | Burke LJ et al. | β | 2018 | β |
| Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes. | Zhang T et al. | β | 2018 | β |
| Colon-specific eQTL analysis to inform on functional SNPs. | Moreno V et al. | β | 2018 | β |
| Emerging role of miRNA in attention deficit hyperactivity disorder: a systematic review. | Srivastav S et al. | β | 2018 | β |
| Estimation of cis-eQTL effect sizes using a log of linear model. | Palowitch J et al. | β | 2018 | β |
| From lipid locus to drug target through human genomics. | van der Laan SW et al. | β | 2018 | β |
| Genetic association of molecular traits: A help to identify causative variants in complex diseases. | Vandiedonck C | β | 2018 | β |
| Genetic determinants of co-accessible chromatin regions in activated T cells across humans. | Gate RE et al. | β | 2018 | β |
| Genome-Wide Maps of Transcription Regulatory Elements and Transcription Enhancers in Development and Disease. | Agrawal P et al. | β | 2018 | β |
| High-throughput characterization of genetic effects on DNA-protein binding and gene transcription. | Kalita CA et al. | β | 2018 | β |
| Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue. | Bhalala OG et al. | β | 2018 | β |
| Long non-coding RNA PAX8-AS1 polymorphisms increase the risk of childhood acute lymphoblastic leukemia. | Bahari G et al. | β | 2018 | β |
| Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets. | LempiΓ€inen H et al. | β | 2018 | β |
| Novel candidate genes important for asthma and hypertension comorbidity revealed from associative gene networks. | Saik OV et al. | β | 2018 | β |
| Polymorphism in lncRNA AC016683.6 and its interaction with smoking exposure on the susceptibility of lung cancer. | Li J et al. | β | 2018 | β |
| Quantification of classical HLA class I mRNA by allele-specific, real-time polymerase chain reaction for most Han individuals. | Pan N et al. | β | 2018 | β |
| QuASAR-MPRA: accurate allele-specific analysis for massively parallel reporter assays. | Kalita CA et al. | β | 2018 | β |
| The Associations between Toll-Like Receptor 9 Gene Polymorphisms and Cervical Cancer Susceptibility. | Tian S et al. | β | 2018 | β |
| The differential expression of the blood group P<sup>1</sup> -A4GALT and P<sup>2</sup> -A4GALT alleles is stimulated by the transcription factor early growth response 1. | Yeh CC et al. | β | 2018 | β |
| Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity. | Harley JB et al. | β | 2018 | β |
| ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression. | Eclov RJ et al. | β | 2017 | β |
| A functional SNP regulated by miR-196a-3p in the 3'UTR of FGF2 is associated with bone mineral density in the Chinese population. | Zhu DL et al. | β | 2017 | β |
| A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis. | Carmona FD et al. | β | 2017 | β |
| A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. | Qiu F et al. | β | 2017 | β |
| A meta-analysis of genome-wide association studies of asthma in PuertoΒ Ricans. | Yan Q et al. | β | 2017 | β |
| A polymorphism in human MR1 is associated with mRNA expression and susceptibility to tuberculosis. | Seshadri C et al. | β | 2017 | β |
| Applications of the 1000 Genomes Project resources. | Zheng-Bradley X et al. | β | 2017 | β |
| Association of CD147 genetic polymorphisms with carotid atherosclerotic plaques in a Han Chinese population with cerebral infarction. | Ni T et al. | β | 2017 | β |
| cis-Acting Complex-Trait-Associated lincRNA Expression Correlates with Modulation of Chromosomal Architecture. | Tan JY et al. | β | 2017 | β |
| Cis-SNPs Set Testing and PrediXcan Analysis for Gene Expression Data using Linear Mixed Models. | Zeng P et al. | β | 2017 | β |
| Common genetic variation drives molecular heterogeneity in human iPSCs. | Kilpinen H et al. | β | 2017 | β |
| Data Resources for Human Functional Genomics. | Ardlie KG et al. | β | 2017 | β |
| Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis. | Gschwind AR et al. | β | 2017 | β |
| Effect of Genetic Variability in the <i>CYP4F2</i>, <i>CYP4F11</i>, and <i>CYP4F12</i> Genes on Liver mRNA Levels and Warfarin Response. | Zhang JE et al. | β | 2017 | β |
| Enhanced methods to detect haplotypic effects on gene expression. | Brown R et al. | β | 2017 | β |
| Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping. | Gamazon ER et al. | β | 2017 | β |
| Functional genetic variant of WW domain-containing oxidoreductase (WWOX) gene is associated with hepatocellular carcinoma risk. | Lee HL et al. | β | 2017 | β |
| Functional relevance for associations between osteoporosis and genetic variants. | Liu K et al. | β | 2017 | β |
| Gene Regulatory Elements, Major Drivers of Human Disease. | Chatterjee S et al. | β | 2017 | β |
| Genetic Variants Contributing to Colistin Cytotoxicity: Identification of TGIF1 and HOXD10 Using a Population Genomics Approach. | Eadon MT et al. | β | 2017 | β |
| Genetic variants regulating expression levels and isoform diversity during embryogenesis. | CannavΓ² E et al. | β | 2017 | β |
| Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation. | Mullin BH et al. | β | 2017 | β |
| HEROD: a human ethnic and regional specific omics database. | Zeng X et al. | β | 2017 | β |
| Human genetic variation in <i>VAC14</i> regulates <i>Salmonella</i> invasion and typhoid fever through modulation of cholesterol. | Alvarez MI et al. | β | 2017 | β |
| Identification of shared risk loci and pathways for bipolar disorder and schizophrenia. | Forstner AJ et al. | β | 2017 | β |
| Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression. | Calderon D et al. | β | 2017 | β |
| Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans. | Hernandez W et al. | β | 2017 | β |
| Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. | Joehanes R et al. | β | 2017 | β |
| Integrating personalized gene expression profiles into predictive disease-associated gene pools. | Menche J et al. | β | 2017 | β |
| Interplay of cis and trans mechanisms driving transcription factor binding and gene expression evolution. | Wong ES et al. | β | 2017 | β |
| Prediction of gene expression with cis-SNPs using mixed models and regularization methods. | Zeng P et al. | β | 2017 | β |
| Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders. | Savova V et al. | β | 2017 | β |
| Screening for interaction effects in gene expression data. | Castaldi PJ et al. | β | 2017 | β |
| Single nucleotide polymorphisms in ZNRD1-AS1 increase cancer risk in an Asian population. | Wang PY et al. | β | 2017 | β |
| SNP Variants in Major Histocompatibility Complex Are Associated with Sarcoidosis Susceptibility-A Joint Analysis in Four European Populations. | Wolin A et al. | β | 2017 | β |
| Systems Genetics as a Tool to Identify Master Genetic Regulators in Complex Disease. | Moreno-Moral A et al. | β | 2017 | β |
| The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population. | Klonowska K et al. | β | 2017 | β |
| The 30 kb deletion in the <i>APOBEC3</i> cluster decreases <i>APOBEC3A</i> and <i>APOBEC3B</i> expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population. | Klonowska K et al. | β | 2017 | β |
| The effect of genetic variation on promoter usage and enhancer activity. | Garieri M et al. | β | 2017 | β |
| The membrane-bound O-acyltransferase domain-containing 7 variant rs641738 increases inflammation and fibrosis in chronic hepatitis B. | Thabet K et al. | β | 2017 | β |
| Transcriptional signature of lymphoblastoid cell lines of <i>BRCA1</i>, <i>BRCA2</i> and non-<i>BRCA1/2</i> high risk breast cancer families. | Pouliot MC et al. | β | 2017 | β |
| Abundant contribution of short tandem repeats to gene expression variation in humans. | Gymrek M et al. | β | 2016 | β |
| 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 |
| Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. | Berndt SI et al. | β | 2013 | β |
| Genome-wide discovery of genetic variants affecting tamoxifen sensitivity and their clinical and functional validation. | Weng L et al. | β | 2013 | β |
| Genome-wide haplotype analysis of cis expression quantitative trait loci in monocytes. | Garnier S et al. | β | 2013 | β |
| Genome-wide search for exonic variants affecting translational efficiency. | Li Q et al. | β | 2013 | β |
| Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines. | Duan J et al. | β | 2013 | β |
| Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver. | SchrΓΆder A et al. | β | 2013 | β |
| Human expression QTLs are enriched in signals of environmental adaptation. | Ye K et al. | β | 2013 | β |
| Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis. | Alcina A et al. | β | 2013 | β |
| Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. | Cross-Disorder Group of the Psychiatric Genomics Consortium | β | 2013 | β |
| Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies. | Alonso-Perez E et al. | β | 2013 | β |
| Identifying recent adaptations in large-scale genomic data. | Grossman SR et al. | β | 2013 | β |
| Immune-mediated disease genetics: the shared basis of pathogenesis. | Cotsapas C et al. | β | 2013 | β |
| Immune response is a personal matter. | Ferreira PG et al. | β | 2013 | β |
| Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood. | Mehta D et al. | β | 2013 | β |
| Impact of polymorphisms in drug pathway genes on disease-free survival in adults with acute myeloid leukemia. | Yee SW et al. | β | 2013 | β |
| Incorporating the human gene annotations in different databases significantly improved transcriptomic and genetic analyses. | Chen G et al. | β | 2013 | β |
| Insights from genome-wide association studies of drug response. | Zhou K et al. | β | 2013 | β |
| Integrated enrichment analysis of variants and pathways in genome-wide association studies indicates central role for IL-2 signaling genes in type 1 diabetes, and cytokine signaling genes in Crohn's disease. | Carbonetto P et al. | β | 2013 | β |
| Integrating mechanistic and polymorphism data to characterize human genetic susceptibility for environmental chemical risk assessment in the 21st century. | Mortensen HM et al. | β | 2013 | β |
| Integrative analyses for functional mechanisms underlying associations for rheumatoid arthritis. | Deng FY et al. | β | 2013 | β |
| Joint high-dimensional Bayesian variable and covariance selection with an application to eQTL analysis. | Bhadra A et al. | β | 2013 | β |
| Loci influencing blood pressure identified using a cardiovascular gene-centric array. | Ganesh SK et al. | β | 2013 | β |
| Lymphoblastoid cell lines in pharmacogenomics: how applicable are they to clinical outcomes? | Stark AL et al. | β | 2013 | β |
| Methylomics of gene expression in human monocytes. | Liu Y et al. | β | 2013 | β |
| MicroRNAs Implicated in Dysregulation of Gene Expression Following Human Lung Transplantation. | Zhang W et al. | β | 2013 | β |
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation. | Gutierrez-Arcelus M et al. | β | 2013 | β |
| Pharmacogenomics discovery and implementation in genome-wide association studies era. | Ni X et al. | β | 2013 | β |
| Post genome-wide association studies functional characterization of prostate cancer risk loci. | Jiang J et al. | β | 2013 | β |
| Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data. | Gerasimova A et al. | β | 2013 | β |
| Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility. | Chang CJ et al. | β | 2013 | β |
| Robust prediction of expression differences among human individuals using only genotype information. | Manor O et al. | β | 2013 | β |
| SCAN: a systems biology approach to pharmacogenomic discovery. | Gamazon ER et al. | β | 2013 | β |
| Single Nucleotide Polymorphisms Associated with MicroRNA Regulation. | Jin Y et al. | β | 2013 | β |
| Social environmental effects on gene regulation. | Tung J et al. | β | 2013 | β |
| Structured association analysis leads to insight into Saccharomyces cerevisiae gene regulation by finding multiple contributing eQTL hotspots associated with functional gene modules. | Curtis RE et al. | β | 2013 | β |
| Systems genetics in "-omics" era: current and future development. | Li H | β | 2013 | β |
| The general population cohort in rural south-western Uganda: a platform for communicable and non-communicable disease studies. | Asiki G et al. | β | 2013 | β |
| The Genotype-Tissue Expression (GTEx) project. | GTEx Consortium | β | 2013 | β |
| The impact of the genome-wide supported variant in the cyclin M2 gene on gray matter morphology in schizophrenia. | Ohi K et al. | β | 2013 | β |
| The relationship between eight GWAS-identified single-nucleotide polymorphisms and primary breast cancer outcomes. | Bayraktar S et al. | β | 2013 | β |
| TNF dually mediates resistance and susceptibility to mycobacteria via mitochondrial reactive oxygen species. | Roca FJ et al. | β | 2013 | β |
| Towards precision medicine: advances in computational approaches for the analysis of human variants. | Peterson TA et al. | β | 2013 | β |
| Transcriptome and genome sequencing uncovers functional variation in humans. | Lappalainen T et al. | β | 2013 | β |
| Understanding human variation in infectious disease susceptibility through clinical and cellular GWAS. | Ko DC et al. | β | 2013 | β |
| Using chromatin marks to interpret and localize genetic associations to complex human traits and diseases. | Trynka G et al. | β | 2013 | β |
| Using eQTL weights to improve power for genome-wide association studies: a genetic study of childhood asthma. | Li L et al. | β | 2013 | β |
| Variants in ZNRD1 gene predict HIV-1/AIDS disease progression in a Han Chinese population in Taiwan. | Lin YJ et al. | β | 2013 | β |
| Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders. | Wegerer M et al. | β | 2013 | β |
| Variation and genetic control of protein abundance in humans. | Wu L et al. | β | 2013 | β |
| Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. | Cooper DN et al. | β | 2013 | β |
| Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders. | Bassaganyas L et al. | β | 2013 | β |
| A description of large-scale metabolomics studies: increasing value by combining metabolomics with genome-wide SNP genotyping and transcriptional profiling. | Homuth G et al. | β | 2012 | β |
| A genome-wide association search for type 2 diabetes genes in African Americans. | Palmer ND et al. | β | 2012 | β |
| A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. | Okada Y et al. | β | 2012 | β |
| A genome-wide scan for common variants affecting the rate of age-related cognitive decline. | De Jager PL et al. | β | 2012 | β |
| A genome-wide screen for genetic variants that modify the recruitment of REST to its target genes. | Johnson R et al. | β | 2012 | β |
| Annotation of functional variation in personal genomes using RegulomeDB. | Boyle AP et al. | β | 2012 | β |
| Association analyses identify multiple new lung cancer susceptibility loci and their interactions with smoking in the Chinese population. | Dong J et al. | β | 2012 | β |
| Association between SNPs and gene expression in multiple regions of the human brain. | Kim S et al. | β | 2012 | β |
| Association of the IL-10 gene family locus on chromosome 1 with juvenile idiopathic arthritis (JIA). | Omoyinmi E et al. | β | 2012 | β |
| Associations between gene expression variations and ovarian cancer risk alleles identified from genome wide association studies. | Zhao H et al. | β | 2012 | β |
| A survey of genomic studies supports association of circadian clock genes with bipolar disorder spectrum illnesses and lithium response. | McCarthy MJ et al. | β | 2012 | β |
| A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals. | Becker J et al. | β | 2012 | β |
| A tale of two haplotypes: the EDA2R/AR Intergenic region is the most divergent genomic segment between Africans and East Asians in the human genome. | Casto AM et al. | β | 2012 | β |
| A vision for a biomedical cloud. | Grossman RL et al. | β | 2012 | β |
| Bioinformatic Resources of microRNA Sequences, Gene Targets, and Genetic Variation. | Mu W et al. | β | 2012 | β |
| Bioinformatics for personal genome interpretation. | Capriotti E et al. | β | 2012 | β |
| Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. | Zou F et al. | β | 2012 | β |
| Bridging the Gap between Genotype and Phenotype via Network Approaches. | Kim YA et al. | β | 2012 | β |
| Chapter 5: Network biology approach to complex diseases. | Cho DY et al. | β | 2012 | β |
| Common polymorphisms in angiogenesis. | Rogers MS et al. | β | 2012 | β |
| Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese. | Akamatsu S et al. | β | 2012 | β |
| Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. | Okada Y et al. | β | 2012 | β |
| Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression. | Greliche N et al. | β | 2012 | β |
| Constructing endophenotypes of complex diseases using non-negative matrix factorization and adjusted rand index. | Wang HM et al. | β | 2012 | β |
| Coordinating GWAS results with gene expression in a systems immunologic paradigm in autoimmunity. | Stranger BE et al. | β | 2012 | β |
| Current genetic methodologies in the identification of disaster victims and in forensic analysis. | ZiΔtkiewicz E et al. | β | 2012 | β |
| Deciphering the genetic architecture of variation in the immune response to Mycobacterium tuberculosis infection. | Barreiro LB et al. | β | 2012 | β |
| Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios. | Garg P et al. | β | 2012 | β |
| Discovery of regulatory elements in human ATP-binding cassette transporters through expression quantitative trait mapping. | Matsson P et al. | β | 2012 | β |
| Dissecting the regulatory architecture of gene expression QTLs. | Gaffney DJ et al. | β | 2012 | β |
| DNaseβI sensitivity QTLs are a major determinant of human expression variation. | Degner JF et al. | β | 2012 | β |
| Effect of DISC1 SNPs on brain structure in healthy controls and patients with a history of psychosis. | KΓ€hler AK et al. | β | 2012 | β |
| Epigenetic Regulation in Particulate Matter-Mediated Cardiopulmonary Toxicities: A Systems Biology Perspective. | Wang T et al. | β | 2012 | β |
| eQTL. | Li L et al. | β | 2012 | β |
| Estimation of alternative splicing variability in human populations. | GonzΓ lez-Porta M et al. | β | 2012 | β |
| Evaluation of microRNA expression profiles and their associations with risk alleles in lymphoblastoid cell lines of familial ovarian cancer. | Shen J et al. | β | 2012 | β |
| Evaluation of Parkinson disease risk variants as expression-QTLs. | Latourelle JC et al. | β | 2012 | β |
| Exon-specific QTLs skew the inferred distribution of expression QTLs detected using gene expression array data. | Veyrieras JB et al. | β | 2012 | β |
| Exploiting gene expression variation to capture gene-environment interactions for disease. | Idaghdour Y et al. | β | 2012 | β |
| Expression of the autoimmunity associated TNFAIP3 is increased in rheumatoid arthritis but does not differ according to genotype at 6q23. | Maxwell JR et al. | β | 2012 | β |
| Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes. | de Jong S et al. | β | 2012 | β |
| Extensive genetic diversity and substructuring among zebrafish strains revealed through copy number variant analysis. | Brown KH et al. | β | 2012 | β |
| Extent, causes, and consequences of small RNA expression variation in human adipose tissue. | Parts L et al. | β | 2012 | β |
| Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in African Americans. | McLaren PJ et al. | β | 2012 | β |
| Functional genetic screen of human diversity reveals that a methionine salvage enzyme regulates inflammatory cell death. | Ko DC et al. | β | 2012 | β |
| Functional genetic variation at the NRGN gene and schizophrenia: evidence from a gene-based case-control study and gene expression analysis. | Ohi K et al. | β | 2012 | β |
| Functional investigation of a schizophrenia GWAS signal at the CDC42 gene. | Gilks WP et al. | β | 2012 | β |
| Functional variants in NFKBIE and RTKN2 involved in activation of the NF-ΞΊB pathway are associated with rheumatoid arthritis in Japanese. | Myouzen K et al. | β | 2012 | β |
| Gene expression anti-profiles as a basis for accurate universal cancer signatures. | Bravo HC et al. | β | 2012 | β |
| Gene expression in the Parkinson's disease brain. | Lewis PA et al. | β | 2012 | β |
| Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects. | van Eijk KR et al. | β | 2012 | β |
| Genetic architecture of microRNA expression: implications for the transcriptome and complex traits. | Gamazon ER et al. | β | 2012 | β |
| Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. | Powell JE et al. | β | 2012 | β |
| Genetics, genomics and other molecular approaches: example of salt-sensitive hypertension. | Brand SM | β | 2012 | β |
| Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. | Fairfax BP et al. | β | 2012 | β |
| Genome-wide approaches in pharmacogenomics: heritability estimation and pharmacoethnicity as primary challenges. | Gamazon ER et al. | β | 2012 | β |
| Genome-wide association analysis identifies susceptibility loci for migraine without aura. | Freilinger T et al. | β | 2012 | β |
| Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. | Amin N et al. | β | 2012 | β |
| Genome-wide association and functional follow-up reveals new loci for kidney function. | Pattaro C et al. | β | 2012 | β |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. | Fox CS et al. | β | 2012 | β |
| Genome-wide association of pericardial fat identifies a unique locus for ectopic fat. | Fox CS et al. | β | 2012 | β |
| Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1. | Matesanz F et al. | β | 2012 | β |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. | Estrada K et al. | β | 2012 | β |
| Genomic approaches towards finding cis-regulatory modules in animals. | Hardison RC et al. | β | 2012 | β |
| Genomic variation and its impact on gene expression in Drosophila melanogaster. | Massouras A et al. | β | 2012 | β |
| Genotype-based test in mapping cis-regulatory variants from allele-specific expression data. | Lefebvre JF et al. | β | 2012 | β |
| Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. | Tobin DM et al. | β | 2012 | β |
| Human complex trait genetics: lifting the lid of the genomics toolbox - from pathways to prediction. | Rowe SJ et al. | β | 2012 | β |
| Identification of cis-regulatory variation influencing protein abundance levels in human plasma. | Lourdusamy A et al. | β | 2012 | β |
| Identification of functional CNV region networks using a CNV-gene mapping algorithm in a genome-wide scale. | Park C et al. | β | 2012 | β |
| Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | Ellinghaus E et al. | β | 2012 | β |
| Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems. | Mercader JM et al. | β | 2012 | β |
| Impact of microRNA regulation on variation in human gene expression. | Lu J et al. | β | 2012 | β |
| Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. | Auer PL et al. | β | 2012 | β |
| Inferring causality and functional significance of human coding DNA variants. | Sunyaev SR | β | 2012 | β |
| 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 |
| Integrative analysis of single nucleotide polymorphisms and gene expression efficiently distinguishes samples from closely related ethnic populations. | Yang HC et al. | β | 2012 | β |
| Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data. | Gamazon ER et al. | β | 2012 | β |
| Integrative systems biology approaches in asthma pharmacogenomics. | Dahlin A et al. | β | 2012 | β |
| Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. | IL6R Genetics Consortium Emerging Risk Factors Collaboration et al. | β | 2012 | β |
| Joint modelling of confounding factors and prominent genetic regulators provides increased accuracy in genetical genomics studies. | Fusi N et al. | β | 2012 | β |
| Linking disease associations with regulatory information in the human genome. | Schaub MA et al. | β | 2012 | β |
| Mapping cis- and trans-regulatory effects across multiple tissues in twins. | Grundberg E et al. | β | 2012 | β |
| Mapping gene-environment interactions at regulatory polymorphisms: insights into mechanisms of phenotypic variation. | Maranville JC et al. | β | 2012 | β |
| Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. | Stolk L et al. | β | 2012 | β |
| 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 |
| Multiple sclerosis risk variant HLA-DRB1*1501 associates with high expression of DRB1 gene in different human populations. | Alcina A et al. | β | 2012 | β |
| Next steps in cardiovascular disease genomic research--sequencing, epigenetics, and transcriptomics. | Schnabel RB et al. | β | 2012 | β |
| Novel late-onset Alzheimer disease loci variants associate with brain gene expression. | Allen M et al. | β | 2012 | β |
| Patterns of cis regulatory variation in diverse human populations. | Stranger BE et al. | β | 2012 | β |
| Peripheral blood gene expression as a novel genomic biomarker in complicated sarcoidosis. | Zhou T et al. | β | 2012 | β |
| Population differences in transcript-regulator expression quantitative trait loci. | Bushel PR et al. | β | 2012 | β |
| Population genetics of cis-regulatory sequences that operate during embryonic development in the sea urchin Strongylocentrotus purpuratus. | Garfield D et al. | β | 2012 | β |
| Population genomic analysis of model and nonmodel organisms using sequenced RAD tags. | Hohenlohe PA et al. | β | 2012 | β |
| Quadruplex-single nucleotide polymorphisms (Quad-SNP) influence gene expression difference among individuals. | Baral A et al. | β | 2012 | β |
| Quantitative high-throughput screening for chemical toxicity in a population-based in vitro model. | Lock EF et al. | β | 2012 | β |
| Resolving the variable genome and epigenome in human disease. | Knight JC | β | 2012 | β |
| Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization. | Hebbring SJ et al. | β | 2012 | β |
| Sex-biased genetic effects on gene regulation in humans. | Dimas AS et al. | β | 2012 | β |
| SNP discovery, expression and cis-regulatory variation in the UGT2B genes. | Sun C et al. | β | 2012 | β |
| SNPxGE(2): a database for human SNP-coexpression associations. | Wang Y et al. | β | 2012 | β |
| Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. | Perry JR et al. | β | 2012 | β |
| Structural effects of linkage disequilibrium on the transcriptome. | Martin JS et al. | β | 2012 | β |
| System-scale network modeling of cancer using EPoC. | Abenius T et al. | β | 2012 | β |
| The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics. | Powell JE et al. | β | 2012 | β |
| The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. | Cusanovich DA et al. | β | 2012 | β |
| The contribution of RNA decay quantitative trait loci to inter-individual variation in steady-state gene expression levels. | Pai AA et al. | β | 2012 | β |
| The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type. | Jendrzejewski J et al. | β | 2012 | β |
| The relationship between phenotypic and environmental variation: do physiological responses reduce interindividual differences? | Oleksiak MF et al. | β | 2012 | β |
| Tissue specificity of genetic regulation of gene expression. | GΓΆring HH | β | 2012 | β |
| Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease. | Bademci G et al. | β | 2012 | β |
| Understanding Disease Susceptibility through Population Genomics. | Han S et al. | β | 2012 | β |
| Use of functional genomics to identify candidate genes underlying human genetic association studies of vascular diseases. | Yang X | β | 2012 | β |
| Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses. | Stegle O et al. | β | 2012 | β |
| A comprehensively molecular haplotype-resolved genome of a European individual. | Suk EK et al. | β | 2011 | β |
| A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. | Wild PS et al. | β | 2011 | β |
| A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. | Hu Z et al. | β | 2011 | β |
| 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 |
| Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. | Wood AR et al. | β | 2011 | β |
| Alternative splicing and genetic diversity: silencers are more frequently modified by SNVs associated with alternative exon/intron borders. | de Souza JE et al. | β | 2011 | β |
| An integrative functional genomics approach for discovering biomarkers in schizophrenia. | Vawter MP et al. | β | 2011 | β |
| Assembling global maps of cellular function through integrative analysis of physical and genetic networks. | Srivas R et al. | β | 2011 | β |
| Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus. | Adrianto I et al. | β | 2011 | β |
| Chipster: user-friendly analysis software for microarray and other high-throughput data. | Kallio MA et al. | β | 2011 | β |
| Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines. | Alonso-Perez E et al. | β | 2011 | β |
| Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. | Shi Y et al. | β | 2011 | β |
| Comparison of strategies to detect epistasis from eQTL data. | Kapur K et al. | β | 2011 | β |
| Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity. | Gamazon ER et al. | β | 2011 | β |
| COSINE: COndition-SpecIfic sub-NEtwork identification using a global optimization method. | Ma H et al. | β | 2011 | β |
| Current status of genome-wide association studies in cancer. | Chung CC et al. | β | 2011 | β |
| Dissecting cis regulation of gene expression in human metabolic tissues. | Dobrin R et al. | β | 2011 | β |
| DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. | Bell JT et al. | β | 2011 | β |
| ELF1 is associated with systemic lupus erythematosus in Asian populations. | Yang J et al. | β | 2011 | β |
| Enhancers in embryonic stem cells are enriched for transposable elements and genetic variations associated with cancers. | Teng L et al. | β | 2011 | β |
| Evidence for more than one Parkinson's disease-associated variant within the HLA region. | Hill-Burns EM et al. | β | 2011 | β |
| Fenfluramine-induced gene dysregulation in human pulmonary artery smooth muscle and endothelial cells. | Yao W et al. | β | 2011 | β |
| Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes. | Carvajal-Carmona LG et al. | β | 2011 | β |
| Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. | Williams HJ et al. | β | 2011 | β |
| First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children. | Roeske D et al. | β | 2011 | β |
| From expression QTLs to personalized transcriptomics. | Montgomery SB et al. | β | 2011 | β |
| Gene-based tests of association. | Huang H et al. | β | 2011 | β |
| Gene expression and genetic variation data implicate PCLO in bipolar disorder. | Choi KH et al. | β | 2011 | β |
| Gene expression differences among primates are associated with changes in a histone epigenetic modification. | Cain CE et al. | β | 2011 | β |
| Gene expression endophenotypes: a novel approach for gene discovery in Alzheimer's disease. | Ertekin-Taner N | β | 2011 | β |
| Gene expression variation between African Americans and whites is associated with coronary artery calcification: the multiethnic study of atherosclerosis. | Huang CC et al. | β | 2011 | β |
| Genetics of sputum gene expression in chronic obstructive pulmonary disease. | Qiu W et al. | β | 2011 | β |
| Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma. | Tantisira KG et al. | β | 2011 | β |
| Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. | Albagha OM et al. | β | 2011 | β |
| Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. | Fornage M et al. | β | 2011 | β |
| Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans. | Wheeler HE et al. | β | 2011 | β |
| Genomic variation in the mouse. | Hardiman G | β | 2011 | β |
| Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. | Grundberg E et al. | β | 2011 | β |
| HLA rs3129882 variant in Chinese Han patients with late-onset sporadic Parkinson disease. | Guo Y et al. | β | 2011 | β |
| Human leukocyte antigen class I region single-nucleotide polymorphisms are associated with leprosy susceptibility in Vietnam and India. | Alter A et al. | β | 2011 | β |
| Human lymphoblastoid cell lines: a goldmine for the biobankomics era. | Nam HY et al. | β | 2011 | β |
| Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. | Innocenti F et al. | β | 2011 | β |
| Identifying causal genes and dysregulated pathways in complex diseases. | Kim YA et al. | β | 2011 | β |
| Integrating expression profiling and whole-genome association for dissection of fat traits in a porcine model. | Ponsuksili S et al. | β | 2011 | β |
| Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans. | Rotival M et al. | β | 2011 | β |
| Integrating microRNAs into a system biology approach to acute lung injury. | Zhou T et al. | β | 2011 | β |
| Integrative genome-wide association analysis of cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders. | Kim S et al. | β | 2011 | β |
| Integrative genomics strategies to elucidate the complexity of drug response. | Kasarskis A et al. | β | 2011 | β |
| Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes. | Maranville JC et al. | β | 2011 | β |
| Joint genetic analysis of gene expression data with inferred cellular phenotypes. | Parts L et al. | β | 2011 | β |
| Lack of association of Klotho gene variants with valvular and vascular calcification in Caucasians: a candidate gene study of the Framingham Offspring Cohort. | Tangri N et al. | β | 2011 | β |
| Mapping rare and common causal alleles for complex human diseases. | Raychaudhuri S | β | 2011 | β |
| Meta-analysis and genome-wide interpretation of genetic susceptibility to drug addiction. | Li CY et al. | β | 2011 | β |
| Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. | Kato N et al. | β | 2011 | β |
| Network Medicine: New Paradigm in the -Omics Era. | Guo NL | β | 2011 | β |
| Network modeling of the transcriptional effects of copy number aberrations in glioblastoma. | JΓΆrnsten R et al. | β | 2011 | β |
| Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain. | Xu X et al. | β | 2011 | β |
| Novel functional germline variants in the VEGF receptor 2 gene and their effect on gene expression and microvessel density in lung cancer. | Glubb DM et al. | β | 2011 | β |
| Partitioning transcript variation in Drosophila: abundance, isoforms, and alleles. | Yang Y et al. | β | 2011 | β |
| Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex. | Vandiedonck C et al. | β | 2011 | β |
| Progress and promise of genome-wide association studies for human complex trait genetics. | Stranger BE et al. | β | 2011 | β |
| Rare and common regulatory variation in population-scale sequenced human genomes. | Montgomery SB et al. | β | 2011 | β |
| Relationship of sclerostin and secreted frizzled protein polymorphisms with bone mineral density: an association study with replication in postmenopausal women. | Valero C et al. | β | 2011 | β |
| Sequence-based characterization of structural variation in the mouse genome. | Yalcin B et al. | β | 2011 | β |
| Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals. | Price AL et al. | β | 2011 | β |
| Spatio-temporal transcriptome of the human brain. | Kang HJ et al. | β | 2011 | β |
| Survey of the effect of genetic variations on gene expression in human prefrontal cortex and its application to genetics of psychiatric disorders. | Iwamoto K et al. | β | 2011 | β |
| The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. | Nica AC et al. | β | 2011 | β |
| The effects of EBV transformation on gene expression levels and methylation profiles. | Caliskan M et al. | β | 2011 | β |
| The genetic basis of metabolic individuality in humans. | Hardiman G | β | 2011 | β |
| The impact of cis-acting polymorphisms on the human phenotype. | Jones BL et al. | β | 2011 | β |
| The impact of self-identified race on epidemiologic studies of gene expression. | Sharma S et al. | β | 2011 | β |
| The Influence of 3'UTRs on MicroRNA Function Inferred from Human SNP Data. | Hu Z et al. | β | 2011 | β |
| The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol. | Leduc MS et al. | β | 2011 | β |
| The neuronal transporter gene SLC6A15 confers risk to major depression. | Kohli MA et al. | β | 2011 | β |
| The study of eQTL variations by RNA-seq: from SNPs to phenotypes. | Majewski J et al. | β | 2011 | β |
| The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits. | Min JL et al. | β | 2011 | β |
| The use of genomic information to optimize cancer chemotherapy. | Innocenti F et al. | β | 2011 | β |
| Type 2 diabetes (T2D) associated polymorphisms regulate expression of adjacent transcripts in transformed lymphocytes, adipose, and muscle from Caucasian and African-American subjects. | Sharma NK et al. | β | 2011 | β |
| Variable set enrichment analysis in genome-wide association studies. | Yang W et al. | β | 2011 | β |
| Variants of the RELA gene are associated with schizophrenia and their startle responses. | Hashimoto R et al. | β | 2011 | β |
| Variation in innate immunity genes and risk of multiple myeloma. | Purdue MP et al. | β | 2011 | β |
| A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies. | Stegle O et al. | β | 2010 | β |
| Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. | Gibbs JR et al. | β | 2010 | β |
| Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. | Fogarty MP et al. | β | 2010 | β |
| Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. | Sun C et al. | β | 2010 | β |
| A map of human genome variation from population-scale sequencing. | 1000 Genomes Project Consortium et al. | β | 2010 | β |
| An immune response network associated with blood lipid levels. | Inouye M et al. | β | 2010 | β |
| An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6. | Fairfax BP et al. | β | 2010 | β |
| An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. | Hsu YH et al. | β | 2010 | β |
| Annotating the regulatory genome. | Montgomery SB et al. | β | 2010 | β |
| A polymorphism in the VKORC1 regulator calumenin predicts higher warfarin dose requirements in African Americans. | Voora D et al. | β | 2010 | β |
| Association of polymorphisms in the klotho gene with severity of non-diabetic ESRD in African Americans. | Bostrom MA et al. | β | 2010 | β |
| Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. | Nica AC et al. | β | 2010 | β |
| Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. | Cunnington MS et al. | β | 2010 | β |
| Cis-acting allelic variation in MUC5B mRNA expression is associated with different promoter haplotypes. | Loh AX et al. | β | 2010 | β |
| Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. | Hamza TH et al. | β | 2010 | β |
| Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. | Okada Y et al. | β | 2010 | β |
| Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset. | Gamazon ER et al. | β | 2010 | β |
| Detection, validation, and downstream analysis of allelic variation in gene expression. | Ciobanu DC et al. | β | 2010 | β |
| Disease-associated mutations that alter the RNA structural ensemble. | Halvorsen M et al. | β | 2010 | β |
| Divergent and nonuniform gene expression patterns in mouse brain. | Morris JA et al. | β | 2010 | β |
| Evolutionary history of regulatory variation in human populations. | Lappalainen T et al. | β | 2010 | β |
| Explaining inter-individual variability in phenotype: is epigenetics up to the challenge? | Turan N et al. | β | 2010 | β |
| Expression analysis of loci associated with type 2 diabetes in human tissues. | Cotsapas C et al. | β | 2010 | β |
| Exprtarget: an integrative approach to predicting human microRNA targets. | Gamazon ER et al. | β | 2010 | β |
| Female-biased expression on the X chromosome as a key step in sex chromosome evolution in threespine sticklebacks. | Leder EH et al. | β | 2010 | β |
| Fine mapping of the insulin-induced gene 2 identifies a variant associated with LDL cholesterol and total apolipoprotein B levels. | Do R et al. | β | 2010 | β |
| From evolutionary genetics to human immunology: how selection shapes host defence genes. | Barreiro LB et al. | β | 2010 | β |
| Functional evaluation of TNFAIP3 (A20) in rheumatoid arthritis. | Elsby LM et al. | β | 2010 | β |
| Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals. | Ding J et al. | β | 2010 | β |
| Gene expression profiling in C57BL/6J and A/J mouse inbred strains reveals gene networks specific for brain regions independent of genetic background. | de Jong S et al. | β | 2010 | β |
| Gene expression variability within and between human populations and implications toward disease susceptibility. | Li J et al. | β | 2010 | β |
| Generation of novel pharmacogenomic candidates in response to methotrexate in juvenile idiopathic arthritis: correlation between gene expression and genotype. | Moncrieffe H et al. | β | 2010 | β |
| Genes and pathways contributing to obesity: a systems biology view. | Drake TA | β | 2010 | β |
| Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. | Cooper DN et al. | β | 2010 | β |
| Genetic crossovers are predicted accurately by the computed human recombination map. | Khil PP et al. | β | 2010 | β |
| Genetic determinants of HSP70 gene expression following heat shock. | Maugeri N et al. | β | 2010 | β |
| Genetics and beyond--the transcriptome of human monocytes and disease susceptibility. | Zeller T et al. | β | 2010 | β |
| Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. | Yang TP et al. | β | 2010 | β |
| Genome-wide association reveals genetic effects on human AΞ²42 and Ο protein levels in cerebrospinal fluids: a case control study. | Han MR et al. | β | 2010 | β |
| Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. | Anttila V et al. | β | 2010 | β |
| Genome-wide discovery of DNA polymorphism in Brassica rapa. | Park S et al. | β | 2010 | β |
| Geographical genomics of human leukocyte gene expression variation in southern Morocco. | Idaghdour Y et al. | β | 2010 | β |
| GWAS analyzer: integrating genotype, phenotype and public annotation data for genome-wide association study analysis. | Fong C et al. | β | 2010 | β |
| Heritable and non-genetic factors as variables of pharmacologic phenotypes in lymphoblastoid cell lines. | Stark AL et al. | β | 2010 | β |
| High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. | Daelemans C et al. | β | 2010 | β |
| HLA-Cw group 1 ligands for KIR increase susceptibility to invasive cervical cancer. | Martin MP et al. | β | 2010 | β |
| Identification of local- and habitat-dependent selection: scanning functionally important genes in nine-spined sticklebacks (Pungitius pungitius). | Shikano T et al. | β | 2010 | β |
| Identification of quantitative trait loci underlying proteome variation in human lymphoblastoid cells. | Garge N et al. | β | 2010 | β |
| Increasing alternative promoter repertories is positively associated with differential expression and disease susceptibility. | Liu S | β | 2010 | β |
| Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease. | Prescott NJ et al. | β | 2010 | β |
| Insights from GWAS into the quantitative genetics of transcription in humans. | Kim J et al. | β | 2010 | β |
| Integrated genomics of susceptibility to alkylator-induced leukemia in mice. | Cahan P et al. | β | 2010 | β |
| Making informed choices about microarray data analysis. | Reimers M | β | 2010 | β |
| Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes. | Murphy A et al. | β | 2010 | β |
| Modeling expression quantitative trait loci in data combining ethnic populations. | Hsiao CL et al. | β | 2010 | β |
| Multiple Functional Variants in cis Modulate PDYN Expression. | Babbitt CC et al. | β | 2010 | β |
| Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. | Hov JR et al. | β | 2010 | β |
| Natural variation, functional pleiotropy and transcriptional contexts of odorant binding protein genes in Drosophila melanogaster. | Arya GH et al. | β | 2010 | β |
| Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates. | Hiard S et al. | β | 2010 | β |
| Pharmacogenomics: a systems approach. | Wang L | β | 2010 | β |
| Population differences in platinum toxicity as a means to identify novel genetic susceptibility variants. | O'Donnell PH et al. | β | 2010 | β |
| Population differences in the rate of proliferation of international HapMap cell lines. | Stark AL et al. | β | 2010 | β |
| Recent advances in the genetics of systemic lupus erythematosus. | Flesher DL et al. | β | 2010 | β |
| Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus. | Myouzen K et al. | β | 2010 | β |
| SCAN: SNP and copy number annotation. | Gamazon ER et al. | β | 2010 | β |
| Selected summaries from the XVII World Congress of Psychiatric Genetics, San Diego, California, USA, 4-8 November 2009. | Amstadter AB et al. | β | 2010 | β |
| Serious limitations of the QTL/microarray approach for QTL gene discovery. | Verdugo RA et al. | β | 2010 | β |
| Systems biology and heart failure: concepts, methods, and potential research applications. | Adams KF | β | 2010 | β |
| Systems genetics analysis of gene-by-environment interactions in human cells. | Romanoski CE et al. | β | 2010 | β |
| The effect of translocation-induced nuclear reorganization on gene expression. | Harewood L et al. | β | 2010 | β |
| The emerging role of microRNAs in drug responses. | Zhang W et al. | β | 2010 | β |
| The genetics of ischaemic stroke. | Matarin M et al. | β | 2010 | β |
| The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. | International HIV Controllers Study et al. | β | 2010 | β |
| Tissue-specific and ubiquitous expression patterns from alternative promoters of human genes. | Jacox E et al. | β | 2010 | β |
| Transcriptome genetics using second generation sequencing in a Caucasian population. | Montgomery SB et al. | β | 2010 | β |
| Understanding mechanisms underlying human gene expression variation with RNA sequencing. | Pickrell JK et al. | β | 2010 | β |
| Variability of gene expression profiles in human blood and lymphoblastoid cell lines. | Min JL et al. | β | 2010 | β |
| WWOX tumour suppressor gene polymorphisms and ovarian cancer pathology and prognosis. | Paige AJ et al. | β | 2010 | β |
| XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments. | Swertz MA et al. | β | 2010 | β |
| Adaptive variation regulates the expression of the human SGK1 gene in response to stress. | Luca F et al. | β | 2009 | β |
| Advances in genetical genomics of plants. | Joosen RV et al. | β | 2009 | β |
| A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. | Song H et al. | β | 2009 | β |
| A genome-wide association study of testicular germ cell tumor. | Rapley EA et al. | β | 2009 | β |
| A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease. | Ko DC et al. | β | 2009 | β |
| A graphical model approach for inferring large-scale networks integrating gene expression and genetic polymorphism. | Chu JH et al. | β | 2009 | β |
| A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder. | Wendland JR et al. | β | 2009 | β |
| Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. | Verlaan DJ et al. | β | 2009 | β |
| Allele-specific gene expression is widespread across the genome and biological processes. | Palacios R et al. | β | 2009 | β |
| A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population. | Capasso M et al. | β | 2009 | β |
| A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells. | Lee JH et al. | β | 2009 | β |
| Assessing individual differences in genome-wide gene expression in human whole blood: reliability over four hours and stability over 10 months. | Meaburn EL et al. | β | 2009 | β |
| Associations between decay-accelerating factor polymorphisms and allergic respiratory diseases. | Kawai T et al. | β | 2009 | β |
| Characterization of a novel splicing variant in the RAPTOR gene. | Sun C et al. | β | 2009 | β |
| Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. | Trynka G et al. | β | 2009 | β |
| Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23. | Orozco G et al. | β | 2009 | β |
| Common regulatory variation impacts gene expression in a cell type-dependent manner. | Dimas AS et al. | β | 2009 | β |
| Comprehensive analysis of Arabidopsis expression level polymorphisms with simple inheritance. | Plantegenet S et al. | β | 2009 | β |
| Data structures and algorithms for analysis of genetics of gene expression with Bioconductor: GGtools 3.x. | Carey VJ et al. | β | 2009 | β |
| Detecting SNP-expression associations: a comparison of mutual information and median test with standard statistical approaches. | Szymczak S et al. | β | 2009 | β |
| Detection and interpretation of expression quantitative trait loci (eQTL). | Michaelson JJ et al. | β | 2009 | β |
| Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human. | Zhang K et al. | β | 2009 | β |
| Diverse evolutionary histories for beta-adrenoreceptor genes in humans. | Cagliani R et al. | β | 2009 | β |
| Emerging concepts in biomarker discovery; the US-Japan Workshop on Immunological Molecular Markers in Oncology. | Tahara H et al. | β | 2009 | β |
| Emerging themes and new challenges in defining the role of structural variation in human disease. | Sharp AJ | β | 2009 | β |
| Ensembl 2009. | Hubbard TJ et al. | β | 2009 | β |
| eQTL analysis in humans. | Franke L et al. | β | 2009 | β |
| Exploring the relationship between polymorphic (TG/CA)n repeats in intron 1 regions and gene expression. | Zhang W et al. | β | 2009 | β |
| Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines. | Duan S et al. | β | 2009 | β |
| Expression differences by continent of origin point to the immortalization process. | Davis AR et al. | β | 2009 | β |
| Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast. | Maia AT et al. | β | 2009 | β |
| Extracting, storing and distributing DNA for a birth cohort study. | Jones R | β | 2009 | β |
| FGFR2 is associated with hair thickness in Asian populations. | Fujimoto A et al. | β | 2009 | β |
| From the Cover: CD39 deletion exacerbates experimental murine colitis and human polymorphisms increase susceptibility to inflammatory bowel disease. | Friedman DJ et al. | β | 2009 | β |
| Functional ENTPD1 polymorphisms in African Americans with diabetes and end-stage renal disease. | Friedman DJ et al. | β | 2009 | β |
| Gene expression in peripheral blood leukocytes in monozygotic twins discordant for chronic fatigue: no evidence of a biomarker. | Byrnes A et al. | β | 2009 | β |
| Gene expression levels are a target of recent natural selection in the human genome. | Kudaravalli S et al. | β | 2009 | β |
| Genetic control of global gene expression levels in the intestinal mucosa: a human twin study. | HΓ€sler R et al. | β | 2009 | β |
| Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci. | de la Chapelle A | β | 2009 | β |
| Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. | Hesselson SE et al. | β | 2009 | β |
| Genetic variation of regulatory systems. | Dimas AS et al. | β | 2009 | β |
| Genome 10K: a proposal to obtain whole-genome sequence for 10,000 vertebrate species. | Genome 10K Community of Scientists | β | 2009 | β |
| Genome-wide association data reveal a global map of genetic interactions among protein complexes. | Hannum G et al. | β | 2009 | β |
| Genome-wide association study in humans. | Smith JG et al. | β | 2009 | β |
| Genome-wide transcriptional profiling reveals microRNA-correlated genes and biological processes in human lymphoblastoid cell lines. | Wang L et al. | β | 2009 | β |
| Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. | Ge B et al. | β | 2009 | β |
| Graph theoretical approach to study eQTL: a case study of Plasmodium falciparum. | Huang Y et al. | β | 2009 | β |
| HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C. | Thomas R et al. | β | 2009 | β |
| Identification of candidate regulatory SNPs by combination of transcription-factor-binding site prediction, SNP genotyping and haploChIP. | Ameur A et al. | β | 2009 | β |
| Identification of common genetic variants that account for transcript isoform variation between human populations. | Zhang W et al. | β | 2009 | β |
| Identification of copy number variants defining genomic differences among major human groups. | Armengol L et al. | β | 2009 | β |
| Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. | Raychaudhuri S et al. | β | 2009 | β |
| Inherited variation in gene expression. | Skelly DA et al. | β | 2009 | β |
| Interpreting genetics of gene expression: integrative architecture in Bioconductor. | Carey VJ et al. | β | 2009 | β |
| Klotho variants and chronic hemodialysis mortality. | Friedman DJ et al. | β | 2009 | β |
| Learning a prior on regulatory potential from eQTL data. | Lee SI et al. | β | 2009 | β |
| Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility. | Sadee W | β | 2009 | β |
| Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. | Soranzo N et al. | β | 2009 | β |
| Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. | Ahmed S et al. | β | 2009 | β |
| On Jim Watson's APOE status: genetic information is hard to hide. | Nyholt DR et al. | β | 2009 | β |
| Pharmacogenomic discovery using cell-based models. | Welsh M et al. | β | 2009 | β |
| Polymorphisms in the GAD2 gene-region are associated with susceptibility for unipolar depression and with a risk factor for anxiety disorders. | Unschuld PG et al. | β | 2009 | β |
| Population genomics in a disease targeted primary cell model. | Grundberg E et al. | β | 2009 | β |
| Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. | Cheung CL et al. | β | 2009 | β |
| Probing the functional impact of sequence variation on p53-DNA interactions using a novel microsphere assay for protein-DNA binding with human cell extracts. | Noureddine MA et al. | β | 2009 | β |
| Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. | Wheeler HE et al. | β | 2009 | β |
| Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry. | Schisler JC et al. | β | 2009 | β |
| Targeted screening of cis-regulatory variation in human haplotypes. | Verlaan DJ et al. | β | 2009 | β |
| The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes. | Hennah W et al. | β | 2009 | β |
| The genetics of human autoimmune disease. | Invernizzi P et al. | β | 2009 | β |
| The human Major Histocompatibility Complex as a paradigm in genomics research. | Vandiedonck C et al. | β | 2009 | β |
| The resolution of the genetics of gene expression. | Montgomery SB et al. | β | 2009 | β |
| Tissue effect on genetic control of transcript isoform variation. | Kwan T et al. | β | 2009 | β |
| TLR9 polymorphisms in African populations: no association with severe malaria, but evidence of cis-variants acting on gene expression. | Campino S et al. | β | 2009 | β |
| Use of cell lines in the investigation of pharmacogenetic loci. | Zhang W et al. | β | 2009 | β |
| Using network component analysis to dissect regulatory networks mediated by transcription factors in yeast. | Ye C et al. | β | 2009 | β |
| Variants in MTNR1B influence fasting glucose levels. | Prokopenko I et al. | β | 2009 | β |
| X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women. | Siddiqui RA et al. | β | 2009 | β |
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). | Melzer D et al. | β | 2008 | β |
| A genome-wide gene expression signature of environmental geography in leukocytes of Moroccan Amazighs. | Idaghdour Y et al. | β | 2008 | β |
| Ancestry-related differences in gene expression: findings may enhance understanding of health disparities between populations. | Zhang W et al. | β | 2008 | β |
| Approaching biomarker discovery through genomics. | Rich SS | β | 2008 | β |
| Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. | Hom G et al. | β | 2008 | β |
| Beyond the HapMap Genotypic Data: Prospects of Deep Resequencing Projects. | Zhang W et al. | β | 2008 | β |
| Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. | Richards JB et al. | β | 2008 | β |
| Bone morphogenic protein 3 inactivation is an early and frequent event in colorectal cancer development. | Loh K et al. | β | 2008 | β |
| Cell-based Models for Discovery of Pharmacogenomic Markers of Anticancer Agent Toxicity. | Zhang W et al. | β | 2008 | β |
| Common variants near MC4R are associated with fat mass, weight and risk of obesity. | Loos RJ et al. | β | 2008 | β |
| Concordant gene expression in leukemia cells and normal leukocytes is associated with germline cis-SNPs. | French D et al. | β | 2008 | β |
| Considering dependence among genes and markers for false discovery control in eQTL mapping. | Chen L et al. | β | 2008 | β |
| Deck of CArGs. | Miano JM | β | 2008 | β |
| Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. | Serre D et al. | β | 2008 | β |
| Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments. | Benovoy D et al. | β | 2008 | β |
| Effects of cis and trans genetic ancestry on gene expression in African Americans. | Price AL et al. | β | 2008 | β |
| eQED: an efficient method for interpreting eQTL associations using protein networks. | Suthram S et al. | β | 2008 | β |
| Estimating the size of the human interactome. | Stumpf MP et al. | β | 2008 | β |
| Evolutionary signatures of common human cis-regulatory haplotypes. | Ouyang C et al. | β | 2008 | β |
| Fine mapping of regulatory loci for mammalian gene expression using radiation hybrids. | Park CC et al. | β | 2008 | β |
| From gene expression to disease risk. | Dermitzakis ET | β | 2008 | β |
| From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions. | Nebert DW et al. | β | 2008 | β |
| FstSNP-HapMap3: a database of SNPs with high population differentiation for HapMap3. | Duan S et al. | β | 2008 | β |
| Gene-environment interaction in yeast gene expression. | Smith EN et al. | β | 2008 | β |
| Generalizing genetical genomics: getting added value from environmental perturbation. | Li Y et al. | β | 2008 | β |
| Gene set enrichment in eQTL data identifies novel annotations and pathway regulators. | Wu C et al. | β | 2008 | β |
| Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. | Choy E et al. | β | 2008 | β |
| Genetic architecture of transcript-level variation in humans. | Duan S et al. | β | 2008 | β |
| Genome-wide association studies for complex traits: consensus, uncertainty and challenges. | McCarthy MI et al. | β | 2008 | β |
| Genome-wide association studies: potential next steps on a genetic journey. | McCarthy MI et al. | β | 2008 | β |
| Genomic predictors of interindividual differences in response to DNA damaging agents. | Fry RC et al. | β | 2008 | β |
| Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer. | Valle L et al. | β | 2008 | β |
| High-resolution mapping of expression-QTLs yields insight into human gene regulation. | Veyrieras JB et al. | β | 2008 | β |
| Identifying the susceptibility genes for coronary artery disease: from hyperbole through doubt to cautious optimism. | Hamsten A et al. | β | 2008 | β |
| Integrating Epigenomics into Pharmacogenomic Studies. | Zhang W et al. | β | 2008 | β |
| Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. | Johnston CM et al. | β | 2008 | β |
| MAOA methylation is associated with nicotine and alcohol dependence in women. | Philibert RA et al. | β | 2008 | β |
| MicroRNA regulation and the variability of human cortical gene expression. | Zhang R et al. | β | 2008 | β |
| Modifier effects between regulatory and protein-coding variation. | Dimas AS et al. | β | 2008 | β |
| Pharmacogenomics: candidate gene identification, functional validation and mechanisms. | Wang L et al. | β | 2008 | β |
| Progress in the genetics of common obesity: size matters. | Li S et al. | β | 2008 | β |
| Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. | Tong Z et al. | β | 2008 | β |
| Protein networks in disease. | Ideker T et al. | β | 2008 | β |
| Revealing the architecture of gene regulation: the promise of eQTL studies. | Gilad Y et al. | β | 2008 | β |
| Reverse engineering the genotype-phenotype map with natural genetic variation. | Rockman MV | β | 2008 | β |
| Serial analysis of gene expression identifies connective tissue growth factor expression as a prognostic biomarker in gallbladder cancer. | Alvarez H et al. | β | 2008 | β |
| SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. | DΓΆring A et al. | β | 2008 | β |
| SNPExpress: integrated visualization of genome-wide genotypes, copy numbers and gene expression levels. | Sanders MA et al. | β | 2008 | β |
| Social and ethical implications of genomics, race, ethnicity, and health inequities. | Bonham VL et al. | β | 2008 | β |
| Sorafenib for the treatment of unresectable hepatocellular carcinoma. | Furuse J | β | 2008 | β |
| The environmental contribution to gene expression profiles. | Gibson G | β | 2008 | β |
| The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies. | Rieder MJ et al. | β | 2008 | β |
| The genetics of multiple sclerosis: SNPs to pathways to pathogenesis. | Oksenberg JR et al. | β | 2008 | β |
| The HapMap Resource is Providing New Insights into Ourselves and its Application to Pharmacogenomics. | Zhang W et al. | β | 2008 | β |
| Tuning gene expression to changing environments: from rapid responses to evolutionary adaptation. | LΓ³pez-Maury L et al. | β | 2008 | β |
| Type 2 diabetes: new genes, new understanding. | Prokopenko I et al. | β | 2008 | β |
| Using gene expression to investigate the genetic basis of complex disorders. | Nica AC et al. | β | 2008 | β |
| Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations. | Campino S et al. | β | 2008 | β |
| Whole genome expression and biochemical correlates of extreme constitutional types defined in Ayurveda. | Prasher B et al. | β | 2008 | β |