Todd C. Skaar

The paper improves G6PD variant interpretation using All of Us data and a yeast assay, identifying new variants and classifying some as non-pathogenic.

This study investigates the combined effect of rs699 and rs5051 on angiotensinogen expression and hypertension, finding no significant difference in liver AGT expression or hypertension phenotypes when the variants occur independently.

The paper assesses opportunities for germline pharmacogenetics and drug-drug interaction management in advanced cancer patients using EHR data and CPIC guidelines.

The paper identifies functional variants in human brains with alcohol use disorders by combining allele-specific expression analysis with high-throughput reporter assays.

The paper develops regSNPs-intron, a random forest classifier to prioritize intronic SNVs for disease, validated using ASSET-seq functional assays.