Author

Alex W Stark

University of Utah

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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alun ThomasiD· 1 shared Andrew Paquette· 1 shared Angela K Snow· 1 shared Brett A Milash· 1 shared Bryony A. ThompsoniD· 1 shared David E Goldgar· 1 shared Jason GertziD· 1 shared Joshua Unger· 1 shared

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2021-2021 · peak 1/yr

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1 shared paperGenetics

Alun ThomasORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintApr 27, 2021

Resolving the Functional Significance of BRCA1 RING Domain Missense Substitutions

Andrew Paquette, Kayoko Tao, Kathleen A Clark…·Sean V Tavtigian

The paper develops and validates a mammalian 2-hybrid assay to classify BRCA1 RING domain missense substitutions, finding 20% are pathogenic and classifying 89% of observed variants.

2 citations

humanstatistical model

𝕏 PostBluesky