Author

Diya Choudhary

The University of QueenslandORCID 0009-0004-0815-8627Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:machine learning (classical)· 1 Assay:protein structure· 1 Research Focus:variant effect prediction· 1

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David Benjamin AscheriD· 1 shared Stephanie PortelliiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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1 shared paperBioinformatics

David Benjamin AscherORCID

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1 paper

Recent·Most cited

BioinformaticsbioRxivPreprintAug 26, 2026

Determinants of missense pathogenicity in Usherin: Evaluating sequence and predicted-structure features

Diya Choudhary, Stephanie Portelli, David Benjamin Ascher

This paper develops UshEffect-3D, a variant effect predictor for USH2A missense variants using sequence and predicted structure features, reclassifying 37.2% of ClinVar VUS as likely pathogenic.

DOI 10.64898/2026.04.23.720479

humanprotein structure

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