Author

ANDREW P. FELLOWES

Peter MacCallum Cancer CentreORCID 0000-0003-4267-3599Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Brian H. ShirtsiD· 2 shared Catherine Huang· 2 shared Eric W. KleeiD· 2 shared Farol L. Tomson· 2 shared Justin M. ZookiD· 2 shared Marc SalitiD· 2 shared Matthew J. FerberiD· 2 shared Megan H. ClevelandiD· 2 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Brian H. ShirtsORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineBioData MiningPeer-reviewedOct 29, 2025

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

Kenneth Doig, Rashindrie D Perera, Yamuna Kankanige…·Stephen B. Fox

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

4 citations

whole-exome sequencingmachine learning (classical)

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJun 24, 2022

DNA sequencing and gene-expression profiling assists in making a tissue of origin diagnosis in cancer of unknown primary

Atara Posner, Owen W.J. Prall, Tharani Sivakumaran…·Richard W. Tothill

This study combines DNA sequencing and gene-expression profiling with clinical data to improve diagnosis of cancer of unknown primary (CUP), identifying potential tissue origins in over a third of cases.

DOI 10.1101/2022.06.24.22276729

humanbulk RNA-seq

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 18, 2021

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook…·Robert Luke Nussbaum

The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.

91 citationstop 1%

humanwhole-exome sequencing

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GeneticsbioRxivPreprintNov 23, 2017

An interlaboratory study of complex variant detection

Stephen E. Lincoln, Justin M. Zook, Shimul Chowdhury…·Brian H. Shirts

This study evaluates synthetic specimens with challenging variants across 10 NGS workflows, finding limited variant detection consistency and highlighting bioinformatic limitations.

11 citations

whole-genome sequencingstatistical model

𝕏 PostBluesky