ArticleGenome research2015
Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort.
Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed, 119 citations in OpenAlex.
- Quantifying the impact of genetic mutations on enhancer dynamics.bioRxiv : the preprint server for biology · 2025Article
- Comparative Analysis of Deep Learning Models for Predicting Causative Regulatory Variants.Genes · 2025Article
- Gene regulatory activity associated with polycystic ovary syndrome revealed DENND1A-dependent testosterone production.Nature communications · 2025Article
- Uncovering methylation-dependent genetic effects on regulatory element function in diverse genomes.Genome research · 2025Article
- Identification of functional non-coding variants associated with orofacial cleft.Nature communications · 2025Article
- Training deep learning models on personalized genomic sequences improves variant effect prediction.bioRxiv : the preprint server for biology · 2025Article
- Understanding genetic variants in context.eLife · 2024Article
- Review
- Review
- Multiplex profiling of developmental cis-regulatory elements with quantitative single-cell expression reporters.Nature methods · 2024Article
- Functional dissection of complex and molecular trait variants at single nucleotide resolution.bioRxiv : the preprint server for biology · 2024Article
- Proformer: a hybrid macaron transformer model predicts expression values from promoter sequences.BMC bioinformatics · 2024Article
- Characterization of caffeine response regulatory variants in vascular endothelial cells.eLife · 2024Article
- Review
- Article
- Challenges and considerations for reproducibility of STARR-seq assays.Genome research · 2023Article
- Optimized high-throughput screening of non-coding variants identified from genome-wide association studies.Nucleic acids research · 2023Article
- Leveraging massively parallel reporter assays for evolutionary questions.Genome biology · 2023Review
- Systematic assays and resources for the functional annotation of non-coding variants.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Multiplexed functional genomic assays to decipher the noncoding genome.Human molecular genetics · 2022Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
We report a novel high-throughput method to empirically quantify individual-specific regulatory element activity at the population scale. The approach combines targeted DNA capture with a high-throughput reporter gene expression assay. As demonstration, we measured the activity of more than 100 putative regulatory elements from 95 individuals in a single experiment. In agreement with previous reports, we found that most genetic variants have weak effects on distal regulatory element activity. Because haplotypes are typically maintained within but not between assayed regulatory elements, the approach can be used to identify causal regulatory haplotypes that likely contribute to human phenotypes. Finally, we demonstrate the utility of the method to functionally fine map causal regulatory variants in regions of high linkage disequilibrium identified by expression quantitative trait loci (eQTL) analyses.
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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.