Author

Jasmine Minh Hang Nguyen

The University of SydneyORCID 0009-0003-6163-6248Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexis IoannouiD· 1 shared Audrey AC CouttsiD· 1 shared Benjamin LiveseyiD· 1 shared Chloë M. StantoniD· 1 shared Elias T. FrimaniD· 1 shared Elizabeth F Hird· 1 shared Giovanna WeykopfiD· 1 shared Jing SuiD· 1 shared

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2025-2025 · peak 1/yr

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1 shared paperGenomics

Alexis IoannouORCID

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1 paper

Recent·Most cited

GenomicsbioRxivPreprintJul 24, 2025

Disease-associated genetic variants can cause mutations in tissue-specific protein isoforms

Giovanna Weykopf, Mihaly Badonyi, Elias T. Friman…·Simon Cameron Biddie

The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.

1 citation

humanlong-read sequencing

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