ArticleHGG advances2022
From GWAS variant to function: A study of ∼148,000 variants for blood cell traits.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies.American journal of human genetics · 2026Article
- GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.Genome biology · 2025Article
- Multi-INTACT: integrative analysis of the genome, transcriptome, and proteome identifies causal mechanisms of complex traits.Genome biology · 2025Article
- GWAS-Informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.bioRxiv : the preprint server for biology · 2024Article
- Gene expression and splicing QTL analysis of blood cells in African American participants from the Jackson Heart Study.Genetics · 2024Article
- Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19.Blood cells, molecules & diseases · 2023Article
- Functional characterization of Alzheimer's disease genetic variants in microglia.Nature genetics · 2023Article
- Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens.Science (New York, N.Y.) · 2023Article
- Understanding Regulatory Mechanisms of Brain Function and Disease through 3D Genome Organization.Genes · 2022Review
- Advances in Single-Cell Multi-Omics and Application in Cardiovascular Research.Frontiers in cell and developmental biology · 2022Review
- Immuno-Modulatory Effects of Intervertebral Disc Cells.Frontiers in cell and developmental biology · 2022Review
- Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants.Frontiers in cell and developmental biology · 2022Review
- Super interactive promoters provide insight into cell type-specific regulatory networks in blood lineage cell types.PLoS genetics · 2022Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
Genome-wide association studies (GWASs) have identified hundreds of thousands of genetic variants associated with complex diseases and traits. However, most variants are noncoding and not clearly linked to genes, making it challenging to interpret these GWAS signals. We present a systematic variant-to-function study, prioritizing the most likely functional elements of the genome for experimental follow-up, for >148,000 variants identified for hematological traits. Specifically, we developed VAMPIRE: Variant Annotation Method Pointing to Interesting Regulatory Effects, an interactive web application implemented in R Shiny. This tool efficiently integrates and displays information from multiple complementary sources, including epigenomic signatures from blood-cell-relevant tissues or cells, functional and conservation summary scores, variant impact on protein and gene expression, chromatin conformation information, as well as publicly available GWAS and phenome-wide association study (PheWAS) results. Leveraging data generated from independently performed functional validation experiments, we demonstrate that our prioritized variants, genes, or variant-gene links are significantly more likely to be experimentally validated. This study not only has important implications for systematic and efficient revelation of functional mechanisms underlying GWAS variants for hematological traits but also provides a prototype that can be adapted to many other complex traits, paving the path for efficient variant-to-function (V2F) 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.