Author

Romy Walker

The University of MelbourneORCID 0000-0001-8948-8417Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aung Ko WiniD· 4 shared Bernard J. PopeiD· 4 shared Christophe RostyiD· 4 shared Daniel D. BuchananiD· 4 shared Finlay MacraeiD· 4 shared Ingrid WinshipiD· 4 shared Jihoon Eric JooiD· 4 shared John Llewelyn HopperiD· 4 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Aung Ko WinORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 8, 2024

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

Romy Walker, Jihoon Eric Joo, Khalid Mahmood…·Peter Georgeson

The paper shows adenomas from individuals with biallelic MUTYH or NTHL1 variants have mutational signatures similar to CRCs, suggesting adenomas can be used for variant classification and cancer prevention.

DOI 10.1101/2024.08.08.24311713

humanwhole-exome sequencing

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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

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Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewedNov 14, 2022

Evaluating multiple next-generation sequencing derived tumor features to accurately predict DNA mismatch repair status

Romy Walker, Peter Georgeson, Khalid Mahmood…·Daniel D. Buchanan

The paper evaluates multiple next-generation sequencing features to predict DNA mismatch repair status in tumors, finding that combining features improves accuracy across different cancer types.

13 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewedDec 28, 2020

Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome

Bernard J. Pope, Mark Clendenning, Christophe Rosty…·Daniel D. Buchanan

This study uses germline and tumor whole genome sequencing to identify the cause of mismatch repair deficiency in suspected Lynch syndrome cases, finding that most cases are due to somatic mutations rather than inherited variants.

23 citations

humanwhole-genome sequencing

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