Ivan Carcamo‐Orive

The paper identifies genetic factors influencing iPSC growth rates, finding rare variants in WDR54 and a polygenic background explaining most variance.

FastGxC efficiently maps context-specific eQTLs in bulk and single-cell RNA-seq data, improving power and speed while enhancing biological relevance and trait association precision.

This study identifies novel causal genes for NAFLD using a combination of GWAS, genetic colocalization, and CRISPRi functional screens.

CROP-Seq uses CRISPRi and scRNA-Seq to screen gene targets in adipocytes, identifying gene knock-down effects and novel regulators of adipogenesis and metabolic disease.

The paper integrates genetic colocalizations with physiological and pharmacological perturbations to identify causal genes for cardiometabolic diseases.

The paper identifies environmental modulators of genetic risk factors for complex traits by integrating perturbation data with GWAS.

The paper maps regulatory effects of human disease variants in pluripotent cells, identifying cis- and trans-QTL across 18,556 genes and linking them to GWAS traits.

The paper examines how structural variants and short tandem repeats affect gene expression and complex traits, identifying high-impact variants associated with multiple genes and GWAS traits.

The paper discovers and genotypes a comprehensive set of structural variants and short tandem repeats using multiple algorithms and replicates, creating a well-characterized map of these variants.