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Article

Multiomic QTL mapping reveals phenotypic complexity of GWAS loci and prioritizes putative causal variants.

Cell genomics - 12 Mar 2025

Arthur Timothy D, Nguyen Jennifer P, Henson Benjamin A, D'Antonio-Chronowska Agnieszka, Jaureguy Jeffrey, Silva Nayara, Panopoulos Athanasia D, Izpisua Belmonte Juan Carlos, D'Antonio Matteo, McVicker Graham, Frazer Kelly A

Abstract excerpt

Most GWAS loci are presumed to affect gene regulation; however, only ∼43% colocalize with expression quantitative trait loci (eQTLs). To address this colocalization gap, we map eQTLs, chromatin accessibility QTLs (caQTLs), and histone acetylation QTLs (haQTLs) using molecular samples from three early developmental-like tissues. Through colocalization, we annotate 10.4% (n = 540) of GWAS loci in 15 traits by QTL...

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Topics

Quantitative Trait Loci
Genome-Wide Association Study
Phenotype
Humans
Chromosome Mapping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Chromatin

Polymorphism, Single Nucleotide

Histones

Source

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Identifiers

PMID: 39986281
DOI: 10.1016/j.xgen.2025.100775
PMCID: PMC11960542

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