Joaquín Pérez‐Schindler

The paper introduces CASTIE, a method for context-dependent eQTL mapping in single-cell data, identifying regulatory variants missed by static models and linking them to disease traits.

The paper maps context-dependent genetic regulation of cardiometabolic loci in human adipocytes using a multi-donor cell village system and single-nucleus multiome sequencing under various metabolic stress conditions.

TEscape uses long-read sequencing to comprehensively annotate the human transposable element transcriptome, identifying over 83,000 previously unannotated isoforms.

The paper presents a genome-wide perturbation atlas using CRISPR-Cas9 knockouts to link genes to cellular phenotypes, identifying TMEM251/LYSET as a Golgi-resident protein involved in lysosomal enzyme trafficking.

This study identifies transcription factor networks involved in hepatocyte lipotoxicity using integrative transcriptomic, proteomic, and chromatin accessibility analyses, showing that MAFK and TCF4 deletion protects against fatty acid toxicity.

This study reveals that RNA-bound PGC-1α forms liquid-like nuclear condensates to regulate gene expression and transcriptional networks in response to metabolic stimuli.