ArticleGenome research2018
High-throughput characterization of genetic effects on DNA-protein binding and gene transcription.
Article in Genome research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Systematic analysis of functional genetic and epigenetic variants in colorectal cancer.Science advances · 2026Article
- Quantifying the impact of genetic mutations on enhancer dynamics.bioRxiv : the preprint server for biology · 2025Article
- Comprehensive mapping of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits.Nucleic acids research · 2025Article
- Review
- The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease.Human genetics · 2024Article
- Characterization of caffeine response regulatory variants in vascular endothelial cells.eLife · 2024Article
- Genome-wide enhancer-gene regulatory maps link causal variants to target genes underlying human cancer risk.Nature communications · 2023Article
- Computational Assessment of the Expression-modulating Potential for Non-coding Variants.Genomics, proteomics & bioinformatics · 2023Article
- Challenges and considerations for reproducibility of STARR-seq assays.Genome research · 2023Article
- Deep learning-assisted genome-wide characterization of massively parallel reporter assays.Nucleic acids research · 2022Article
- A general framework for predicting the transcriptomic consequences of non-coding variation and small molecules.PLoS computational biology · 2022Article
- Effects of Human RelA Transgene on Murine Macrophage Inflammatory Responses.Biomedicines · 2022Article
- Predicting genotype-specific gene regulatory networks.Genome research · 2022Article
- Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations.Genome research · 2022Article
- A signature of Neanderthal introgression on molecular mechanisms of environmental responses.PLoS genetics · 2021Article
- REVA as A Well-curated Database for Human Expression-modulating Variants.Genomics, proteomics & bioinformatics · 2021Article
- Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci.Circulation research · 2021Article
- Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.International journal of molecular sciences · 2021Review
- Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease.American journal of human genetics · 2021Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Many variants associated with complex traits are in noncoding regions and contribute to phenotypes by disrupting regulatory sequences. To characterize these variants, we developed a streamlined protocol for a high-throughput reporter assay, Biallelic Targeted STARR-seq (BiT-STARR-seq), that identifies allele-specific expression (ASE) while accounting for PCR duplicates through unique molecular identifiers. We tested 75,501 oligos (43,500 SNPs) and identified 2720 SNPs with significant ASE (FDR < 10%). To validate disruption of binding as one of the mechanisms underlying ASE, we developed a new high-throughput allele-specific binding assay for NFKB1. We identified 2684 SNPs with allele-specific binding (ASB) (FDR < 10%); 256 of these SNPs also had ASE (OR = 1.97,
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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.