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Author

Allan D. Spigelman

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UNSW SydneyORCID 0000-0002-7409-1684Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2Approach:statistical model· 2Assay:whole-exome sequencing· 2Research Focus:differential expression· 1Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aung Ko WiniD· 2 sharedBernard J. PopeiD· 2 sharedChristophe RostyiD· 2 sharedDaniel D. BuchananiD· 2 sharedFinlay MacraeiD· 2 sharedIngrid WinshipiD· 2 sharedJihoon Eric JooiD· 2 sharedJohn Llewelyn HopperiD· 2 shared

Activity by Year

2023-2024 · peak 1/yr
012023: 1 paper (click to filter)120232024: 1 paper (click to filter)12024

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links
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SpigelmanAung Ko Win · 2 shared papersWin · 2Bernard J. Pope · 2 shared papersPope · 2Christophe Rosty · 2 shared papersRosty · 2Daniel D. Buchanan · 2 shared papersBuchanan · 2Finlay Macrae · 2 shared papersMacrae · 2Ingrid Winship · 2 shared papersWinship · 2Jihoon Eric Joo · 2 shared papersJoo · 2John Llewelyn Hopper · 2 shared papersHopper · 2Julia Como · 2 shared papersComo · 2Khalid Mahmood · 2 shared papersMahmood · 2
Focal author (center)Selected co-authorORCID co-authorUnlinked name
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2 shared papersGenetic & Genomic Medicine
Aung Ko WinORCID

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2 papers

Recent·Most cited

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, Mark Clendenning, Julia Como, Susan Preston, Sharelle L. Joseland, Bernard J. Pope, Ana Beatriz Deleame Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin M. Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, , 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.

medRxiv · Aug 8, 2024 · PreprintGenetic & Genomic Medicine