Penelope H. Benchek

This study evaluates two sequence-to-function models for predicting regulatory variant effects across ancestries using blood eQTL data, finding better performance for high-confidence variants in African American populations.

The paper identifies 44 SNPs associated with steroid-induced ocular hypertension using a pharmacogenomic approach.

This paper identifies shared genetic loci between kidney function and Alzheimer disease across ancestries, revealing both horizontal and vertical pleiotropy with APOE as the only shared locus.

This study performs a multi-ancestry transcriptome-wide association study (TWAS) to identify shared and population-specific genetic effects in Alzheimer's disease using RNA-seq and genotype data from multiple cohorts.

This study identifies cathepsin Z as a susceptibility factor for tuberculosis severity in both mice and humans, showing its role in disease outcomes through genetic and cellular analyses.

The paper integrates multi-omic data to identify latent factors associated with resistance to TB conversion, revealing pathways related to multicellular structure and cell-cell interactions.

The paper identifies epigenetic methylation differences in lipid and cholesterol pathways associated with resistance to TST/IGRA conversion after Mtb exposure.

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

kimma is an R package for linear mixed effects modeling of RNA-seq data, offering improved sensitivity and model complexity compared to existing pipelines.

The paper investigates how a haptoglobin structural variant modifies the effect of APOE alleles on Alzheimer's disease risk and age of onset in European-descent and African American populations.

This study validates the association between mosaic loss of the Y chromosome and Alzheimer's Disease using prospective analyses and Mendelian Randomization across multiple cohorts.

POKEMON improves statistical power for detecting associations between rare missense variants and phenotypes by analyzing their spatial distribution on protein structures.

This study identifies 18 significant genetic loci associated with speech sound disorders through GWAS and finds polygenic risk scores linked to clinical severity.