Author

Peter Diakumis

The University of MelbourneORCID 0000-0002-7502-7545Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Systems Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Melanie BahloiD· 2 shared Andrew Martin ChancelloriD· 1 shared Anna HackettiD· 1 shared Anthony Edward LangiD· 1 shared Brent L. FogeliD· 1 shared Daniela Amann‐ZalcensteiniD· 1 shared David J. AmoriD· 1 shared David J. SzmulewicziD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Melanie BahloORCID

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3 papers

Recent·Most cited

RNAsum: a tool for personalised genome and transcriptome interpretation for improved cancer diagnostics

Sehrish Kanwal, Jacek Marzec, Joseph H.A. Vissers, Peter Diakumis, Leila N. Varghese, Luke Tork, Kym Pham Stewart, Oliver Hofmann, Stephen James Luen, Sean Michael Grimmond

RNAsum integrates WGS and WTS data to improve cancer diagnostics by corroborating clinically relevant variants and supporting therapeutic decisions.

medRxiv · Jan 10, 2025 · PreprintGenetic & Genomic Medicine

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Martin Chancellor, Phillip D. Cremer, Martin Bruce Delatycki, , Paul J. Lockhart

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.

The American Journal of Human Genetics · Jun 20, 2019Peer-reviewedGenetics

SIS-seq, a molecular ‘time machine’, connects single cell fate with gene programs

Luyi Tian, Jaring Schreuder, Daniela Amann‐Zalcenstein, Jessica Tran, Nikolce Kocovski, Shian Su, Peter Diakumis, Melanie Bahlo, Tobias Sargeant, Philip D. Hodgkin, Matthew E. Ritchie, Shalin H. Naik

SIS-seq links gene expression with cell fate by analyzing clonal progeny, identifying early gene signatures of dendritic cell subset development.

bioRxiv · Aug 29, 2018 · PreprintSystems Biology