Author

Steven Francis Powell

Sanford HealthORCID 0000-0002-5029-0048Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandre BolzeiD· 1 shared Amy Curry SturmiD· 1 shared C. Anwar A. ChahaliD· 1 shared Catherine A. HajekiD· 1 shared Chad R. Haldeman‐EnglertiD· 1 shared Christopher N. Chapman· 1 shared Daniel Philip JudgeiD· 1 shared Daniela Iacoboni· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandre BolzeORCID

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Author profile →

1 paper

Recent·Most cited

From Uncertain to Actionable: Significant Reduction in Variants of Uncertain Significance in Hereditary Germline Testing via Multi-Institutional Real-World Evidence

Kelly M. Schiabor Barrett, Matthew J. Ferber, Sophie I. Candille, Ildiko Thibodeau, Daniela Iacoboni, Amy Curry Sturm, Chad R. Haldeman‐Englert, Steven Francis Powell, Douglas A. Stoller, Christopher N. Chapman, C. Anwar A. Chahal, Daniel Philip Judge, Douglas A. Olson, Joseph J. Grzymski, Nicole L. Washington, , Elizabeth T. Cirulli

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

medRxiv · Aug 12, 2025 · PreprintGenetic & Genomic Medicine