ArticleNature genetics2007
Population genomics of human gene expression.
Article in Nature genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 746 papers, 7 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
746 citing papers in PubMed, 7 syntheses or guidelines pooled it, 1,180 citations in OpenAlex.
- Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application.Molecular neurodegeneration · 2022Pooled it
- The Associations between Toll-Like Receptor 9 Gene Polymorphisms and Cervical Cancer Susceptibility.Mediators of inflammation · 2018Pooled it
- Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders.Molecular psychiatry · 2017Pooled it
- Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.Human molecular genetics · 2017Pooled it
- A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.The European respiratory journal · 2017Pooled it
- Single nucleotide polymorphisms in ZNRD1-AS1 increase cancer risk in an Asian population.Oncotarget · 2017Pooled it
- Pooled it
- Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI.Translational psychiatry · 2023Trial
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- Machine learning and statistical methods for molecular quantitative trait loci.Nature reviews. Genetics · 2026Review
- Accurate, sensitive, and efficient chromatin accessibility quantification at target loci using UNIChro-seq.Nature communications · 2026Article
- Environmental Regulation and Gene-by-Environment Interaction InfluencebioRxiv : the preprint server for biology · 2026Article
- Integrating Genetics and Environment to Find Causal Mechanisms for Multiple Sclerosis.European journal of immunology · 2026Review
- Cross-Ancestry Polygenic Prediction: Comparing Methods and Assessing Transferability Across Traits.Genetic epidemiology · 2026Article
- Saturating the eQTL map in Drosophila: Genome-wide patterns of cis and trans regulation of transcriptional variation in outbred populations.Cell genomics · 2025Article
- Predicted deleterious mutations reveal the genetic architecture of male reproductive success in a lekking bird.Nature ecology & evolution · 2025Article
- Integrative Genomics Refines Tissues, Candidate Genes and Putative Regulatory Links Involved in the Humic Adaptation of Keystone Freshwater Fish.Molecular ecology · 2025Article
- Evolution of Dosage-Sensitive Genes by Tissue-Restricted Expression Changes.Genome biology and evolution · 2025Article
- Decoding the striatum of drug-naive patients with obsessive-compulsive disorder: a transcriptome and longitudinal functional magnetic resonance imaging study.Translational psychiatry · 2025Article
- Unveiling regulatory variants in the blood transcriptome and their association with immunity traits in pigs.Frontiers in immunology · 2025Article
686 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.