Author

Jo Burke

University of TasmaniaORCID 0000-0001-5175-9226Unclaimed 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· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abiramy Ragunathan· 1 shared Ainsley CampbelliD· 1 shared Alejandro Metke· 1 shared Alessandra BrayiD· 1 shared Alex BoussioutasiD· 1 shared Alex HendersoniD· 1 shared Alison G. ComptoniD· 1 shared Allan D. SpigelmaniD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abiramy Ragunathan

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 19, 2024

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

Rocío Rius, Alison G. Compton, Naomi L. Baker…·David Ross Thorburn

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

11 citations

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

𝕏 PostBluesky