Meritxell Oliva

The paper integrates GWAS and multi-omic QTLs to identify gene-biotype and phenotype associations related to COVID-19, revealing pleiotropy and causal links.

This study conducts a multi-ancestry GWAS meta-analysis of 56,146 AD cases and 602,280 controls, identifying 101 genomic loci, 15 novel to AD or eczema, and linking them to AD pathophysiology through functional analyses.

This study evaluates ten deconvolution tools on 4,000 clinical and synthetic samples, finding EPIC performs best on Framingham data and HPCA references are generally accurate.

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

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 examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.

The paper studies 45 common human polymorphic inversions, showing their functional and evolutionary impact, including gene disruption and association with phenotypic traits.

The paper identifies sex-specific gene expression changes in human myocardial tissue after ischemia, highlighting differences in pathways and cell-type proportions between males and females.

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.