Author

Yvonne Hort

Garvan Institute of Medical Research

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 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:genome assembly· 1 Assay:long-read sequencing· 1 Organism:non-human primate· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Amali C. MallawaarachchiiD· 2 shared Adauto Lima CardosoiD· 1 shared Andre L. M. ReisiD· 1 shared Andrew John MallettiD· 1 shared Arthur GeorgesiD· 1 shared Carolyn J. HoggiD· 1 shared Chirag PateliD· 1 shared Dennis YeowiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amali C. MallawaarachchiORCID

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2 papers

Recent·Most cited

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

Nicole Lehmann, Steven Koo, Yvonne Hort, Gopala K. Rangan, Gladys Ho, Rocío Rius, 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.

medRxiv · Aug 2, 2026 · PreprintGenetic & Genomic Medicine

Targeted sequencing and iterative assembly of near-complete genomes

Hasindu Gamaarachchi, Igor Stevanovski, J. W. Hammond, Andre L. M. Reis, Melissa Rapadas, Kavindu Jayasooriya, Tonia Russell, Dennis Yeow, Yvonne Hort, Chirag Patel, Andrew John Mallett, Elaine Stackpoole, Lauren Roman, Luke W. Silver, Carolyn J. Hogg, , Ira W. Deveson

The paper introduces Cornetto, a method using targeted long-read sequencing to improve genome assembly quality and completeness, particularly for challenging regions and sample types.

Nature Communications · Nov 24, 2025Peer-reviewedGenomics