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

Genetics · Nov 28, 2024Peer-reviewedGenetic & Genomic Medicine

Analysis of the Combined Effect of rs699 and rs5051 on Angiotensinogen Expression and Hypertension

Nicholas R. Powell, Tyler Shugg, Jacob Leighty, Matthew Martin, Rolf Peter Kreutz, Michael T. Eadon, Dongbing Lai, Tao Lu, Todd C. Skaar

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.

Chronic Diseases and Translational Medicine · Dec 26, 2023Peer-reviewedGenetics

CLINICAL OPPORTUNITIES FOR GERMLINE PHARMACOGENETICS AND MANAGEMENT OF DRUG-DRUG INTERACTIONS IN PATIENTS WITH ADVANCED SOLID CANCERS

Tyler Shugg, Reynold C. Ly, Elizabeth J. Rowe, Santosh Philips, Mustafa A Hyder, Milan Radovich, Marc B. Rosenman, Victoria M. Pratt, John Thomas Callaghan, Zeruesenay Desta, Bryan Paul Schneider, Todd C. Skaar

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

JCO Precision Oncology · Feb 24, 2022Peer-reviewedGenetic & Genomic Medicine