Genetic & Genomic MedicinemedRxivPreprint
Individuals with intellectual disability have an increased burden of de novo variants in cis-regulatory elements of glutamatergic neurons.
DOI 10.1101/2025.09.23.25336266
Author
Dónal O’Shea
Ollscoil na Gaillimhe – University of GalwayORCID 0000-0003-3203-3117Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2021-2025 · peak 1/yrCo-Author Collaboration Network
10 top collaborators · 27 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship4 papers
Recent·Most cited
- BioinformaticsbioRxivPreprint
Regulatory Landscape Enrichment Analysis (RLEA) using gaiaAssociation
Eric Sosa, Samuel Rosean, Dónal O’Shea…·John M. Greally
The paper introduces gaiaAssociation, a tool for Regulatory Landscape Enrichment Analysis (RLEA) to identify cell types mediating phenotypes from GWAS data by testing locus enrichment in cell type-specific open chromatin regions.
DOI 10.1101/2023.10.11.561933 - BioinformaticsPLoS Computational BiologyPeer-reviewed
Random-effects meta-analysis of effect sizes as a unified framework for gene set analysis
Mohammad A. Makrooni, Dónal O’Shea, Paul Geeleher, Cathal Seoighe
This paper introduces a unified framework for gene set analysis that improves performance and interpretability by comparing effect size distributions between gene sets and subgroups.
2 citations - GenomicsScientific ReportsPeer-reviewed
Controlling for background genetic effects using polygenic scores improves the power of genome-wide association studies
Declan Bennett, Dónal O’Shea, John P. Ferguson…·Cathal Seoighe
This paper shows that using polygenic scores to control for genetic background effects improves the power of genome-wide association studies and enhances phenotype prediction accuracy.
17 citations