Peter Georgeson
I am a postdoctoral cancer researcher based at The University of Melbourne in Associate Professor Dan Buchanan's Colorectal Oncogenomics Group.
I have an ongoing interest in cancer genomics, statistical methods, and machine learning. My current research focuses on the application of tumour mutational signatures to understanding and detecting the underlying aetiology driving different sub-types of colorectal cancer.
Research Interests: mutational signatures, colorectal cancer, statistical learning, genomics, bioinformatics.
Publications
DNA mismatch repair gene variant classification: evaluating the utility of somatic mutations and mismatch repair deficient colonic crypts and endometrial glands. Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E. Joo, Peter Georgeson, Sharelle Joseland, Susan G. Preston, Bernard J. Pope, James M. Chan, Rachel Austin, Jasmina Bojadzieva, Ainsley Campbell, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Emilia Ip, Judy Kirk, Julia Mansour, Helen Marfan, Cassandra Nichols, Nicholas Pachter, Abiramy Ragunathan, Allan Spigelman, Rachel Susman, Michael Christie, Mark A. Jenkins, Rish K. Pai, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan and. 2023.
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival. Peter Georgeson, Robert S. Steinfelder, Tabitha A. Harrison, Bernard J. Pope, Syed H. Zaidi, Conghui Qu, Yi Lin, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Elom K Aglago, Sonja I. Berndt, Hermann Brenner, Peter T. Campbell, Yin Cao, Andrew T. Chan, Jenny Chang-Claude, Niki Dimou, Kimberly F. Doheny, David A. Drew, Jane C. Figueiredo, Amy J. French, Steven Gallinger, Marios Giannakis, Graham G. Giles, Ellen L Goode, Stephen B Gruber, Andrea Gsur, Marc J. Gunter, Sophia Harlid, Michael Hoffmeister, Li Hsu, Wen-Yi Huang, Jeroen R Huyghe, JoAnn E. Manson, Victor Moreno, Neil Murphy, Rami Nassir, Christina C. Newton, Jonathan A. Nowak, Mireia Obón-Santacana, Shuji Ogino, Rish K. Pai, Nikos Papadimitrou, John D. Potter, Robert E. Schoen, Mingyang Song, Wei Sun, Amanda E. Toland, Quang M. Trinh, Kostas Tsilidis, Tomotaka Ugai, Caroline Y Um, Finlay A. Macrae, Christophe Rosty, Thomas J. Hudson, Ingrid M. Winship, Amanda I. Phipps, Mark A. Jenkins, Ulrike Peters, Daniel D. Buchanan. 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 E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Alex Henderson, Megan Higgins, John L. Hopper, Ryan A. Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O'Connell, Nicholas Pachter, Bernard J. Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A. Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K. Win, Michael D. Walsh, Finlay A. Macrae, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan and. 2023.
Evaluating Multiple Next-Generation Sequencing\textendashDerived Tumor Features to Accurately Predict DNA Mismatch Repair Status. Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E. Joo, Enes Makalic, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ryan A. Hutchinson, Kais Kasem, Michael D. Walsh, Finlay A. Macrae, Aung K. Win, John L. Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M. Sieber, Dylan E. O'Sullivan, Darren R. Brenner, Steven Gallinger, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan. The Journal of Molecular Diagnostics. 2023.
Evaluating multiple next-generation sequencing derived tumor features to accurately predict DNA mismatch repair status. Romy Walker, Peter Georgeson, Khalid Mahmood, Jihoon E. Joo, Enes Makalic, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ryan Hutchinson, Kais Kasem, Michael D. Walsh, Finlay A. Macrae, Aung K. Win, John L. Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M. Sieber, Dylan E. O'Sullivan, Darren R. Brenner, Steven Gallinger, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan. 2022.
Long-read assembly and comparative evidence-based reanalysis of $\less$i$\greater$Cryptosporidium$\less$/i$\greater$ genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions. Rodrigo P. Baptista, Yiran Li, Adam Sateriale, Mandy J. Sanders, Karen L. Brooks, Alan Tracey, Brendan R.E. Ansell, Aaron R. Jex, Garrett W. Cooper, Ethan D. Smith, Rui Xiao, Jennifer E. Dumaine, Peter Georgeson, Bernard J. Pope, Matthew Berriman, Boris Striepen, James A. Cotton, Jessica C. Kissinger. Genome Research. 2021.
MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancer. Patrick McCoy, Stefano Mangiola, Geoff Macintyre, Ryan Hutchinson, Ben Tran, Bernard Pope, Peter Georgeson, Matthew K. H. Hong, Natalie Kurganovs, Sebastian Lunke, Michael J. Clarkson, Marek Cmero, Michael Kerger, Ryan Stuchbery, Ken Chow, Izhak Haviv, Andrew Ryan, Anthony J. Costello, Niall M. Corcoran, Christopher M. Hovens. Prostate Cancer and Prostatic Diseases. 2021.
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer. James M. Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Romy Walker, Julia Como, Jihoon E. Joo, Susan Preston, Ryan A. Hutchinson, Bernard J. Pope, Andrew Metz, Catherine Beard, Rebecca Purvis, Julie Arnold, Varnika Vijay, Galina Konycheva, Nathan Atkinson, Susan Parry, Mark A. Jenkins, Finlay A. Macrae, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan. Familial Cancer. 2021.
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Peter Georgeson, Bernard J Pope, Christophe Rosty, Mark Clendenning, Khalid Mahmood, Jihoon E Joo, Romy Walker, Ryan A Hutchinson, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay A Macrae, John L Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, Darren R Brenner, Steve Gallinger, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan. Gut. 2021.
DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer. Jihoon E. Joo, Mark Clendenning, Ee Ming Wong, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Ingrid M. Winship, Susan G. Preston, Aung Ko Win, Pierre-Antoine Dugué, Harindra Jayasekara, Dallas English, Finlay A. Macrae, John L. Hopper, Mark A. Jenkins, Roger L. Milne, Graham G. Giles, Melissa C. Southey, Daniel D. Buchanan. Cancers. 2021.
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. Bernard J. Pope, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon E. Joo, Romy Walker, Ryan A. Hutchinson, Harindra Jayasekara, Sharelle Joseland, Julia Como, Susan Preston, Amanda B. Spurdle, Finlay A. Macrae, Aung K. Win, John L. Hopper, Mark A. Jenkins, Ingrid M. Winship, Daniel D. Buchanan. The Journal of Molecular Diagnostics. 2021.
Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Peter Georgeson, Bernard J Pope, Christophe Rosty, Mark Clendenning, Khalid Mahmood, Jihoon E Joo, Ryan A Hutchinson, Romy Walker, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay A Macrae, John L Hopper, Dmitry Mouradov, Peter Gibbs, Oliver M Sieber, Dylan E O'Sullivan, Darren R Brenner, Steve Gallinger, Mark A Jenkins, Ingrid M Winship, Daniel D Buchanan. 2019.
Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software. Peter Georgeson, Anna Syme, Clare Sloggett, Jessica Chung, Harriet Dashnow, Michael Milton, Andrew Lonsdale, David Powell, Torsten Seemann, Bernard Pope. GigaScience. 2019.
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome. Peter Georgeson, Michael D. Walsh, Mark Clendenning, Simin Daneshvar, Bernard J. Pope, Khalid Mahmood, Jihoon E. Joo, Harindra Jayasekara, Mark A. Jenkins, Ingrid M. Winship, Daniel D. Buchanan. Molecular Genetics \&$\mathsemicolon$ Genomic Medicine. 2019.
Annotation of the$\less$i$\greater$Giardia$\less$/i$\greater$proteome through structure-based homology and machine learning. Brendan R E Ansell, Bernard J Pope, Peter Georgeson, Samantha J Emery-Corbin, Aaron R Jex. GigaScience. 2018.
sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data. Chol-Hee Jung, Daniel Park, Peter Georgeson, Khalid Mahmood, Roger Milne, Melissa Southey, Bernard Pope. International Journal of Molecular Sciences. 2018.
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope, Daniel J. Park. Human Genomics. 2017.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R. Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J. Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J. Robertson, Aaron J. Robinson, Ivan Macciocca, Simon Sadedin, Katrina Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M. White. JAMA Pediatrics. 2017.
An Emerging Female Phenotype with Loss-of-Function Mutations in the
$\less$i$\greater$Aristaless-$\less$/i$\greater$
Related Homeodomain Transcription Factor
$\less$i$\greater$ARX$\less$/i$\greater$. Tessa Mattiske, Ching Moey, Lisenka E. Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi, Cheryl Shoubridge. Human Mutation. 2017.
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Maie Walsh, Katrina M. Bell, Belinda Chong, Emma Creed, Gemma R. Brett, Kate Pope, Natalie P. Thorne, Simon Sadedin, Peter Georgeson, Dean G. Phelan, Timothy Day, Jessica A. Taylor, Adrienne Sexton, Paul J. Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L. Gaff, Alicia Oshlack, Eppie M. Yiu, Paul A. James, Zornitza Stark, Monique M. Ryan and. Annals of Clinical and Translational Neurology. 2017.
Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells. Bernard J. Pope, Khalid Mahmood, Chol-hee Jung, Peter Georgeson, Daniel J. Park. Genomics Data. 2017.
UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing. Daniel J. Park, Roger Li, Edmund Lau, Peter Georgeson, Tú Nguyen-Dumont, Bernard J. Pope. BMC Bioinformatics. 2016.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Zornitza Stark, Tiong Y. Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito-Lee, Monique M. Ryan, Richard J. Leventer, Emma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, Clara Gaff, Susan M. White. Genetics in Medicine. 2016.
Presentations
- Genomic profiling of colorectal adenomas to identify inherited colorectal cancer and polyposis syndrome carriers
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (2023). Accepted oral presentation. - Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
International Society for Gastrointestinal Hereditary Tumours (New Jersey, USA) (2022). Accepted oral presentation. - The utility of base-excision repair tumor mutational signatures for identifying biallelic MUTYH carriers and classifying germline variants of uncertain clinical significance using colorectal cancer panel-sequenced genomic data
European Hereditary Tumour Group (EHTG) (2021). Accepted oral presentation. - Evaluating the clinical applicability of tumour mutational signatures in colorectal cancer
University of Melbourne Cancer Center Research (UMCCR) (2021). Seminar. - The utility of base-excision repair tumor mutational signatures for identifying biallelic MUTYH carriers and classifying germline variants of uncertain clinical significance using colorectal cancer panel-sequenced genomic data
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (2021). Accepted oral presentation. - Identifying MUTYH-associated polyposis using panel-sequenced genomic data
The Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) Tumour Working Group (2020). Oral presentation. - Evaluating tumour mutational signatures for classification of mismatch repair deficiency and identification of Lynch Syndrome and MLH1 methylated subtypes
International Society for Gastrointestinal Hereditary Tumours (Auckland, New Zealand) (2019). Accepted oral presentation. - Evaluating tumour mutational signatures for classification of mismatch repair deficiency and identification of Lynch Syndrome and MLH1 methylated subtypes
International Society for Gastrointestinal Hereditary Tumours (Auckland, New Zealand) (2019). Accepted oral presentation. - The Clinical Utility of Tumour Mutational Signatures for Identifying Hereditary Colorectal Cancer and Polyposis syndromes
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (2019). Accepted oral presentation. - The Clinical Utility of Tumour Mutational Signatures for Identifying Hereditary Colorectal Cancer and Polyposis syndromes
Familial Aspects of Cancer Research and Practice (Kingscliff, Australia) (2019). Accepted oral presentation. - Evaluating the clinical applicability of somatic mutational signatures
University of Melbourne Cancer Center Research (UMCCR) (2018). Seminar. - Identifying and characterising high resolution mutational signatures from DNA mismatch repair deficient tumours
Australian Bioinformatics and Computational Biology Society (Melbourne, Australia) (2018). Accepted oral presentation.
Teaching
- Guest Lecturer: Diagnostic Genomics at Melbourne Dental School, The University of Melbourne.
Semester 1, 2019 - Tutor: Master of Business Analytics at The University of Melbourne.
Semester 1, 2019 (54 students) - Instructor: Introduction to Unix at Melbourne Bioinformatics.
October, 2018; June, 2018; March, 2018; September, 2017 (68 students) - Instructor: Introduction to High Performance Computing at Melbourne Bioinformatics.
June, 2018; March, 2018 (21 students) - Subject Co-ordinator: Algorithms for Functional Genomics at The University of Melbourne.
Semester 2, 2017 (44 students) - Guest lecturer: Master of Business Analytics at The University of Melbourne.
Semester 1, 2017 (45 students)
Education
- Doctor of Philosophy
The University of Melbourne, Australia - Master of Science (Computer Science)
The University of Melbourne, Australia - Bachelor of Computer Engineering (Hons I)
The University of Newcastle, Australia - Bachelor of Mathematics
The University of Newcastle, Australia
