Author

Nicholas R. Powell

Indiana University IndianapolisORCID 0000-0003-4572-0733Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Dongbing LaiiD· 2 shared Maitreya J. DunhamiD· 2 shared Renee C. GeckiD· 2 shared Todd C. SkaariD· 2 shared Tyler ShuggiD· 2 shared Jacob Leighty· 1 shared Matthew MartiniD· 1 shared Michael T. EadoniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Dongbing LaiORCID

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3 papers

Recent·Most cited

Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program

Nicholas R. Powell, Renee C. Geck, Dongbing Lai, Tyler Shugg, Todd C. Skaar, Maitreya J. Dunham

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

Functional interpretation, cataloging, and analysis of 1,341 known and new glucose-6-phosphate dehydrogenase variants

Renee C. Geck, Nicholas R. Powell, Maitreya J. Dunham

The paper catalogs and interprets 1,341 G6PD variants, providing clinical interpretations for 400 variants and highlighting challenges in classification systems.

bioRxiv · Sep 14, 2022 · PreprintGenetics