ArticleG3 (Bethesda, Md.)2017
Constraints on eQTL Fine Mapping in the Presence of Multisite Local Regulation of Gene Expression.
Article in G3 (Bethesda, Md.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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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.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Endogenous fine-mapping and prioritization of functional regulatory elements in complex genetic loci.Cell genomics · 2025Article
- Haplotype rather than single causal variants effects contribute to regulatory gene expression associations in human myeloid cells.bioRxiv : the preprint server for biology · 2025Article
- Genetic analysis of cis-enhancers associated with bone mineral density and periodontitis in the gene SOST.PloS one · 2025Article
- A scoping review of statistical methods to investigate colocalization between genetic associations and microRNA expression in osteoarthritis.Osteoarthritis and cartilage open · 2024Article
- Article
- QTLbase2: an enhanced catalog of human quantitative trait loci on extensive molecular phenotypes.Nucleic acids research · 2023Article
- Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease.HGG advances · 2022Article
- Methods for statistical fine-mapping and their applications to auto-immune diseases.Seminars in immunopathology · 2022Review
- BACH1 Binding Links the Genetic Risk for Severe Periodontitis withJournal of dental research · 2022Article
- Depression and interleukin-6 signaling: A Mendelian Randomization study.Brain, behavior, and immunity · 2021Article
- TreeMap: a structured approach to fine mapping of eQTL variants.Bioinformatics (Oxford, England) · 2021Article
- An enhanced machine learning tool for cis-eQTL mapping with regularization and confounder adjustments.Genetic epidemiology · 2020Article
- LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS.PLoS computational biology · 2020Article
- Turning genome-wide association study findings into opportunities for drug repositioning.Computational and structural biotechnology journal · 2020Review
- GRAM: A GeneRAlized Model to predict the molecular effect of a non-coding variant in a cell-type specific manner.PLoS genetics · 2019Article
- Article
- Article
- Biological relevance of computationally predicted pathogenicity of noncoding variants.Nature communications · 2019Article
- Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue.PLoS genetics · 2018Article
- Strong epistatic and additive effects of linked candidate SNPs for Drosophila pigmentation have implications for analysis of genome-wide association studies results.Genome biology · 2017Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 4 countries.
Funding
Abstract
Expression quantitative trait locus (eQTL) detection has emerged as an important tool for unraveling of the relationship between genetic risk factors and disease or clinical phenotypes. Most studies use single marker linear regression to discover primary signals, followed by sequential conditional modeling to detect secondary genetic variants affecting gene expression. However, this approach assumes that functional variants are sparsely distributed and that close linkage between them has little impact on estimation of their precise location and the magnitude of effects. We describe a series of simulation studies designed to evaluate the impact of linkage disequilibrium (LD) on the fine mapping of causal variants with typical eQTL effect sizes. In the presence of multisite regulation, even though between 80 and 90% of modeled eSNPs associate with normally distributed traits, up to 10% of all secondary signals could be statistical artifacts, and at least 5% but up to one-quarter of credible intervals of SNPs within
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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.