Author

Di Milnes

Royal Brisbane and Women's HospitalORCID 0000-0001-8779-5157Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:ATAC-seq· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Assay:ChIP-seq· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Abiramy Ragunathan· 1 shared Adrian DalyiD· 1 shared Ainsley CampbelliD· 1 shared Albert M. BeckersiD· 1 shared Alex BoussioutasiD· 1 shared Alex HendersoniD· 1 shared Alexia GrassoiD· 1 shared Allan D. SpigelmaniD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abiramy Ragunathan

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2 papers

Recent·Most cited

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJan 15, 2026

Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE

Giampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso…·Adrian Daly

The paper evaluates the bioinformatic tool POSTRE to distinguish pathogenic from benign GPR101 duplications associated with X-LAG by analyzing enhancer hijacking in a tissue-specific context.

6 citationstop 1%

humanATAC-seq

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Translational MedicinePeer-reviewedApr 26, 2023

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

Romy Walker, Khalid Mahmood, Jihoon Eric Joo…·Daniel D. Buchanan

This study resolves the etiology of suspected Lynch syndrome tumors by analyzing somatic and germline mutations, methylation, and immunohistochemistry in 137 tumors, identifying key causes of DNA mismatch repair deficiency.

22 citationstop 5%

humanwhole-exome sequencing

𝕏 PostBluesky