Maria Imaz

The paper maps eQTLs in stimulated iPSC-derived macrophages and identifies condition-specific reQTLs that colocalize with disease-associated variants.

The paper identifies and validates novel regulators of vascular smooth muscle cell proliferation using network analysis and experimental validation, highlighting RUNX1 and the TIMP1-CD74 axis as potential therapeutic targets.

The paper identifies low-usage splice junctions as contributors to immune-mediated disease risk by linking sQTLs to disease loci and showing their impact on gene expression in inflammation.

The paper introduces CELLO-seq, a long-read RNA sequencing method for single cells, to study TE expression in mouse and human cells, finding locus-specific expression and regulatory heterogeneity.

Souporcell clusters single-cell RNAseq data using genetic variants to accurately assign genotypes, detect doublets, and estimate ambient RNA without reference genotypes.