Rion K. Pendergrass

Systematic assessment of machine learning-based variant annotation methods for rare variant association testing

The paper benchmarks five machine learning-based variant annotation methods for rare variant association testing across 350,377 UK Biobank participants, finding CADD provides best signal separation and GPN-MSA highest enrichment for loss-of-function intolerant genes.

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets

The paper identifies epistatic SNP-SNP interactions in long-range LD across five diseases using UK Biobank and eMERGE data, finding associations involving conserved genes and essential genes.