Author

Ryan A. Hutchinson

The University of MelbourneORCID 0000-0001-8742-5236Unclaimed 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· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aung Ko WiniD· 3 shared Bernard J. PopeiD· 3 shared Christophe RostyiD· 3 shared Daniel D. BuchananiD· 3 shared Finlay MacraeiD· 3 shared Ingrid WinshipiD· 3 shared Jihoon Eric JooiD· 3 shared John Llewelyn HopperiD· 3 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Aung Ko WinORCID

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3 papers

Recent·Most cited

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

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

𝕏 PostBluesky

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

𝕏 PostBluesky