Eleonora Porcu

This paper evaluates the impact of participation bias in the UK Biobank by applying inverse probability weighting to genome-wide association analyses, revealing significant distortions in genetic correlations and Mendelian Randomization estimates.

This study performs a GWAS on retinal vessel tortuosity, identifying 173 novel loci and linking them to vascular pathomechanics and cardiometabolic diseases.

The paper develops a multi-omics Mendelian randomization framework to identify transcript-metabolite-trait causal triplets and shows it outperforms classical transcriptome-wide MR by integrating multiple omics layers.

The paper quantifies mediation between DNA methylation, transcriptome, and proteome layers and their impact on complex traits using multivariable Mendelian randomization.

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

The paper introduces an omics-informed quality score to improve CNV detection and association analysis by reducing false positives and increasing statistical power.

This paper develops a polygenic risk score (metaPRS) to predict sudden cardiac arrest in patients with coronary artery disease using genetic and clinical data from two cohorts.

This study identifies 131 CNV signals associated with 47 complex traits in the UK Biobank, revealing new gene functions and linking CNVs to decreased longevity and health outcomes.

This paper introduces revTWMR, a method to determine causal relationships between gene expression and complex traits, finding that traits more strongly influence gene expression than vice versa.

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

The paper investigates sex-specific cis-eQTLs in whole blood RNA-seq data and finds they do not systematically translate into detectable sex-specific trait associations due to limited power and compensatory effects.

The paper investigates how BOLA2 duplication in chromosome 16p11.2 affects iron homeostasis and anemia risk in autism patients, finding associations with anemia and iron deficiency.

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.