Ángel Martínez-Pérez

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

This study uses whole genome sequencing to identify 18 novel genetic loci associated with plasma fibrinogen levels, including variants more common in African populations and linked to liver-related traits and disease.

The paper identifies PSKH2 as a gene influencing variability in Factor V plasma activity through genome-wide analysis of non-additive allele effects.

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

The paper introduces lme4qtl, an R package extending lme4 to enable flexible covariance structures and parameter constraints for QTL mapping in genetic studies of related individuals.