Alex Tokolyi

The paper identifies microglial states associated with Parkinson's disease genetic risk and Lewy body pathology using single-cell profiling and integrates data with AMP PD.

SingleBrain integrates snRNA-seq and genotype data to map cis-eQTLs across brain cell types, identifying novel disease-associated genes and causal variants.

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

The paper combines natural and engineered genetic variation to identify 22 non-coding variants affecting haematological traits and shows how a CUX1 variant impacts megakaryopoiesis.

The paper maps genetic effects on splicing in 10,725 brain samples, identifying 68,358 cis-sQTLs and 97 loci where splicing mediates neurological disease risk.

The paper uses Bayesian TWAS to identify splicing-disease associations across multiple cohorts, revealing causal mechanisms in immune, vascular, and metabolic traits.

The paper maps eQTLs in stimulated iPSC-derived macrophages and identifies condition-specific reQTLs that colocalize with disease-associated variants.

This study investigates the phenotypic complexities of rare heterozygous NRXN1 deletions, showing cell-type-specific synaptic effects through LOF and GOF mechanisms, highlighting the need for precision medicine strategies.

This study identifies genetic determinants of blood gene expression and splicing, linking them to molecular phenotypes and health outcomes through QTL analysis and colocalization.

The paper identifies misexpression of inactive genes in whole blood and links it to nearby rare structural variants using RNA and genome sequencing data.

In 5,959 Finns with genotypes and stool metagenomes, GWAS found 583 independent SNP-taxon associations; dairy intake modified LCT effects on Bifidobacterium, and ABO-linked Faecalicatena lactaris tracked secretor status.

This paper develops a 3D spatial transcriptomic atlas of the mouse heart and provides a web tool for analysis and visualization.