Eleni Giannoulatou

HeartVar: An LLM-Assisted Tool for Clinical Classification of Variants in Cardiovascular Disease Cohorts

HeartVar automates variant classification for cardiovascular disease using a hybrid rule-based and LLM approach, achieving 72% accuracy on benchmarked ClinGen variants.

Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection

The paper identifies genetic variants associated with spontaneous coronary artery dissection using multi-trait GWAS and gene-based analysis, revealing new loci and biological pathways.

Neural crest cell derived DKK1 modulates Wnt signalling in the second heart field to orchestrate cardiac outflow tract development

The paper identifies DKK1 from neural crest cells as a regulator of Wnt signaling in the second heart field, crucial for cardiac outflow tract development and linked to congenital heart disease.

Utility of polygenic risk scores in diagnostic genetic testing for dilated cardiomyopathy

This study evaluates polygenic risk scores (PRS) in dilated cardiomyopathy (DCM) patients, finding higher PRS in those without monogenic variants and TTN-related DCM, suggesting polygenic contributions.

Robotic Handling Preserves Induced Pluripotent Stem Cell Derived Vascular Smooth Muscle Cells Differentiation using a Weekend-free, Automatable, Low-variability, Low-cost (WALL) Protocol

This paper develops an automated protocol for differentiating iPSC-derived vascular smooth muscle cells and shows that automation does not compromise cell quality or protein expression.

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data

This study evaluates five de novo mutation calling tools on real and simulated whole genome sequencing trio data, finding low concordance and tool-specific performance.

Benchmarking of variant pathogenicity prediction methods using a population genetics approach

This study benchmarks variant pathogenicity predictors using population genetics data, finding CADD and REVEL as the best performers and highlighting biases in ClinVar-based training.

Single cell sequencing data identify distinct B cell and fibroblast populations in stricturing Crohns disease

The paper uses single-cell RNA sequencing to identify distinct B cell and fibroblast populations in stricturing Crohn's disease, highlighting their potential roles in fibrosis.

Improving estimates of negative selection in human genome using CAPS

The paper introduces CAPS, a novel metric for estimating negative selection in the human genome that improves upon MAPS by removing the mutability layer, resulting in less biased estimates and more accurate confidence intervals.

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

Maternal iron deficiency perturbs embryonic cardiovascular development

This study identifies maternal iron deficiency as an environmental teratogen causing congenital heart disease in mice, with potential implications for human health.

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

The paper identifies 61 novel mutations in the aged human testes, most affecting the RAS-MAPK pathway, showing evidence of selfish selection in the male germline.