Author

Gladys Ho

The University of SydneyORCID 0000-0003-2889-0407Unclaimed 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:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amali C. MallawaarachchiiD· 1 shared Gopala K. RanganiD· 1 shared Nicole LehmanniD· 1 shared Rocío RiusiD· 1 shared Steven Koo· 1 shared Yvonne Hort· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amali C. MallawaarachchiORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 2, 2026

Challenges in Classification of PKD1 Missense Variation in Autosomal Dominant Polycystic Kidney Disease

Nicole Lehmann, Steven Koo, Yvonne Hort…·Amali C. Mallawaarachchi

The paper evaluates the performance of in silico tools in classifying PKD1 missense variants as pathogenic or benign, finding most are classified as VUS and tools lack reliability.

DOI 10.64898/2026.07.30.26359376

humanwhole-exome sequencing

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