Author

Piers A. Blombery

Peter MacCallum Cancer CentreORCID 0000-0002-9902-0022Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Biochemistry· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:machine learning (classical)· 2 Research Focus:software / tool· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:deep learning· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Alicia OshlackiD· 2 shared Georgina L. RylandiD· 2 shared N. DavidsoniD· 2 shared Paul G. EkertiD· 2 shared Alan F. RubiniD· 1 shared Andrew LonsdaleiD· 1 shared ANDREW P. FELLOWESiD· 1 shared Anna Malinovitch· 1 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersBioinformatics

Alicia OshlackORCID

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Author profile →

4 papers

Recent·Most cited

Using Artificial Intelligence (AI) to Model Clinical Variant Reporting for Next Generation Sequencing (NGS) Oncology Assays

Kenneth Doig, Rashindrie D Perera, Yamuna Kankanige, ANDREW P. FELLOWES, Jason Li, Richard Lupat, Ella R. Thompson, Piers A. Blombery, Stephen B. Fox

This paper builds machine learning models to predict clinically reportable variants from NGS oncology assays, achieving high precision and recall.

BioData Mining · Oct 29, 2025Peer-reviewedGenetic & Genomic Medicine

Shared and distinct sequence-function signatures define different modes of human TpoR activation

Xinyu Wu, Harry McLeod, Anna Malinovitch, Sally M. Hunter, Samyuktha Ramesh, Margareta Go, Julie V. Nguyen, Alan F. Rubin, W. Bürger, Piers A. Blombery, Matthew Edwin Call, Melissa J. Call

This paper identifies shared and distinct sequence-function signatures for different modes of hTpoR activation using deep mutational scanning and AlphaFold 3 modeling.

bioRxiv · Sep 9, 2025 · PreprintBiochemistry

JAFFAL: Detecting fusion genes with long read transcriptome sequencing

N. Davidson, Ying Chen, Teresa Sadras, Georgina L. Ryland, Piers A. Blombery, Paul G. Ekert, Jonathan Göke, Alicia Oshlack

JAFFAL detects fusion genes from long-read transcriptome sequencing with high accuracy, outperforming existing methods and enabling single-cell resolution.

Genome biology · Jan 6, 2022Peer-reviewedBioinformatics

ALLSorts: a RNA-Seq classifier for B-Cell Acute Lymphoblastic Leukemia.

Breon Schmidt, Lauren M. Brown, Georgina L. Ryland, Andrew Lonsdale, Hansen J. Kosasih, Louise E. A. Ludlow, Ian J. Majewski, Piers A. Blombery, Paul G. Ekert, N. Davidson, Alicia Oshlack

ALLSorts classifies B-ALL samples into 18 subtypes and five meta-subtypes using RNA-Seq data with high accuracy.

bioRxiv · Aug 1, 2021 · PreprintBioinformatics