Author

Madison B. Wiffler

University of Utah

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alun ThomasiD· 1 shared David E. GoldgariD· 1 shared Julie L. Boyle· 1 shared Melissa ClineiD· 1 shared Nicola J. CampiD· 1 shared Scott PewiD· 1 shared Sean V. TavtigianiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alun ThomasORCID

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1 paper

Recent·Most cited

When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.

Scott Pew, Madison B. Wiffler, Alun Thomas, Julie L. Boyle, Melissa Cline, Nicola J. Camp, David E. Goldgar, Sean V. Tavtigian

The paper evaluates the performance of functional assays and computational tools in classifying BRCA1 missense variants using a Bayesian framework and empirical validation.

The American Journal of Human Genetics · Aug 18, 2025Peer-reviewedGenetic & Genomic Medicine