Maria Niarchou

The paper identifies sex-specific genetic loci for clinical traits using EHR data, finding that differential effect magnitudes, not opposing effects, dominate sex-specific genetic architecture.

MarkerMatch improves CNV detection sensitivity across genotyping arrays by matching probes based on proximity, outperforming consensus probe methods.

This study investigates genetic relationships between OCD, BD, SCZ, and MDD using GWAS data, finding causal effects of OCD on BD, SCZ, and MDD.

This study identifies sex-specific genetic loci and correlations for alcohol use behaviors and their comorbidities using genome-wide association studies.

This study identifies rare coding variants contributing to OCD risk and shows genetic overlap with CTD and neurodevelopmental disorders, while showing minimal overlap with bipolar disorder and schizophrenia.

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

GXwasR provides tools for sex-aware genetic analysis in GWAS and XWAS, enabling sex-differentiated effects and polygenic risk scores.

This study identifies 14 genome-wide significant loci for delay discounting in 134,935 individuals and shows genetic associations with 212 medical conditions.

This study performs a multi-ancestry meta-analysis of tobacco use disorder using electronic health records, identifying 88 risk loci and 461 potential risk genes, and linking TUD to various health outcomes.

This study performs a cross-ancestry meta-analysis of opioid use disorder, identifying 14 loci, including 12 novel ones, and finding significant genetic correlations with psychiatric and neurological traits.

This study conducts a genome-wide association study to identify genetic variants linked to musical beat synchronization, finding high polygenicity with 69 significant loci and heritability estimates of 13%-16%.

The paper introduces methods to clean and analyze clinical lab data linked to EHRs, finding polygenic scores associated with lipid levels and coronary artery disease biomarkers.