Jeffrey M. Pullin

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

This paper establishes that FRDA autonomic neurons are hyperexcitable and exhibit mitochondrial dysfunction using iPSC-derived models.

This study uses iPSCs from FRDA patients to model cardiac dysfunction, finding transcriptional dysregulation and phenotypes like increased cell size and mitochondrial stress.

The paper evaluates eQTL-GWAS colocalisation studies, finding that 34-50% of GWAS hits colocalise, with trade-offs between granularity, sample size, and colocalisation detection.

The paper benchmarks four colocalization methods using protein QTL data to assess their reliability and consistency in detecting shared genetic causes.

The paper introduces quasar, a software for eQTL mapping that offers faster performance and better statistical models compared to existing methods.

This paper introduces variant-specific priors in the coloc method to improve colocalisation analysis between GWAS and eQTL associations, showing improved performance and altered significance in some loci.

This study benchmarks 56 marker gene selection methods for scRNA-seq data using real and simulated datasets, finding simple methods like Wilcoxon rank-sum test and t-test to be effective.