Georgia Panagiotaropoulou

The paper develops a framework to map rare variants onto protein structures and identifies disease-associated 3D neighborhoods in 872 genes for Mendelian disease and others for autism, epilepsy, and schizophrenia.

The paper uses population-scale single-nucleus ATAC-seq and RNA-seq to identify regulatory variants and their disease associations in immune cells.

This study identifies genetic risk loci and factors underlying clinical subtypes of bipolar disorder using GWAS and meta-analysis.

This paper prioritizes Parkinson's disease risk genes in GWAS loci using a polygenic priority score, identifying 46 genes with potential for therapeutic development.

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

This study assesses the feasibility of collecting schizophrenia genetic data from a Vietnamese cohort and evaluates the transferability of polygenic risk scores across ancestries.

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

RICOPILI is a Perl-based pipeline for efficient GWAS analysis, including quality control, imputation, and meta-analysis, with automated parallelization for rapid data processing.