Dr Peter Georgeson

Epidemiologic Factors in Relation to Colorectal Cancer Risk and Survival by Genotoxic Colibactin Mutational Signature. Thomas, Claire E., Georgeson, Peter, Qu, Conghui, Steinfelder, Robert S., Buchanan, Daniel D., Song, Mingyang, Harrison, Tabitha A., Um, Caroline Y., Hullar, Meredith A., Jenkins, Mark A., Van Guelpen, Bethany, Lynch, Brigid M., Melaku, Yohannes Adama, Huyghe, Jeroen R., Aglago, Elom K., Berndt, Sonja I., Boardman, Lisa A., Campbell, Peter T., Cao, Yin, Chan, Andrew T., Drew, David A., Figueiredo, Jane C., French, Amy J., Giannakis, Marios, Goode, Ellen L., Gruber, Stephen B., Gsur, Andrea, Gunter, Marc J., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Moreno, Victor, Murphy, Neil, Newcomb, Polly A., Newton, Christina C., Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Sun, Wei, Toland, Amanda E., Trinh, Quang M., Ugai, Tomotaka, Zaidi, Syed H., Peters, Ulrike, Phipps, Amanda I.. Cancer Epidemiology, Biomarkers & Prevention. 2024.

[10.1158/1055-9965.epi-23-0600]  

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family. Chan, James M., Clendenning, Mark, Joseland, Sharelle, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Walker, Romy, Como, Julia, Preston, Susan, Chai, Shuyi Marci, Chu, Yen Lin, Meyers, Aaron L., Pope, Bernard J., Duggan, David, Fink, J. Lynn, Macrae, Finlay A., Rosty, Christophe, Winship, Ingrid M., Jenkins, Mark A., Buchanan, Daniel D.. Familial Cancer. 2023.

[10.1007/s10689-023-00351-2]  

Intratumoral presence of the genotoxic gut bacteria pks+ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer. Joo, Jihoon E., Chu, Yen Lin, Georgeson, Peter, Walker, Romy, Mahmood, Khalid, Clendenning, Mark, Meyers, Aaron L., Como, Julia, Joseland, Sharelle, Preston, Susan G., Diepenhorst, Natalie, Toner, Julie, Ingle, Danielle J., Sherry, Norelle L., Metz, Andrew, Lynch, Brigid M., Milne, Roger L., Southey, Melissa C., Hopper, John L., Win, Aung Ko, Macrae, Finlay A., Winship, Ingrid M., Rosty, Christophe, Jenkins, Mark A., Buchanan, Daniel D.. British Journal of Cancer. 2024.

[10.1038/s41416-023-02554-x]  

DNA mismatch repair gene variant classification: evaluating the utility of somatic mutations and mismatch repair deficient colonic crypts and endometrial glands. Walker, Romy, Mahmood, Khalid, Como, Julia, Clendenning, Mark, Joo, Jihoon E., Georgeson, Peter, Joseland, Sharelle, Preston, Susan G., Pope, Bernard J., Chan, James M., Austin, Rachel, Bojadzieva, Jasmina, Campbell, Ainsley, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Ip, Emilia, Kirk, Judy, Mansour, Julia, Marfan, Helen, Nichols, Cassandra, Pachter, Nicholas, Ragunathan, Abiramy, Spigelman, Allan, Susman, Rachel, Christie, Michael, Jenkins, Mark A., Pai, Rish K., Rosty, Christophe, Macrae, Finlay A., Winship, Ingrid M., Buchanan, Daniel D.. 2023.

[10.1101/2023.09.26.23295173]  

Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival. Georgeson, Peter, Steinfelder, Robert S., Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Aglago, Elom K, Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Dimou, Niki, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Goode, Ellen L, Gruber, Stephen B, Gsur, Andrea, Gunter, Marc J., Harlid, Sophia, Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Huyghe, Jeroen R, Manson, JoAnn E., Moreno, Victor, Murphy, Neil, Nassir, Rami, Newton, Christina C., Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Pai, Rish K., Papadimitrou, Nikos, Potter, John D., Schoen, Robert E., Song, Mingyang, Sun, Wei, Toland, Amanda E., Trinh, Quang M., Tsilidis, Kostas, Ugai, Tomotaka, Um, Caroline Y, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Winship, Ingrid M., Phipps, Amanda I., Jenkins, Mark A., Peters, Ulrike, Buchanan, Daniel D.. 2023.

[10.1101/2023.03.10.23287127]  

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome. Walker, Romy, Mahmood, Khalid, Joo, Jihoon E., Clendenning, Mark, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Antill, Yoland, Austin, Rachel, Boussioutas, Alex, Bowman, Michelle, Burke, Jo, Campbell, Ainsley, Daneshvar, Simin, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Henderson, Alex, Higgins, Megan, Hopper, John L., Hutchinson, Ryan A., Ip, Emilia, Isbister, Joanne, Kasem, Kais, Marfan, Helen, Milnes, Di, Ng, Annabelle, Nichols, Cassandra, O’Connell, Shona, Pachter, Nicholas, Pope, Bernard J., Poplawski, Nicola, Ragunathan, Abiramy, Smyth, Courtney, Spigelman, Allan, Storey, Kirsty, Susman, Rachel, Taylor, Jessica A., Warwick, Linda, Wilding, Mathilda, Williams, Rachel, Win, Aung K., Walsh, Michael D., Macrae, Finlay A., Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.. 2023.

[10.1101/2023.02.27.23285541]  

Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status. Walker, Romy, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Makalic, Enes, Clendenning, Mark, Como, Julia, Preston, Susan, Joseland, Sharelle, Pope, Bernard J., Hutchinson, Ryan A., Kasem, Kais, Walsh, Michael D., Macrae, Finlay A., Win, Aung K., Hopper, John L., Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M., O’Sullivan, Dylan E., Brenner, Darren R., Gallinger, Steven, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.. The Journal of Molecular Diagnostics. 2023.

[10.1016/j.jmoldx.2022.10.003]  

Evaluating multiple next-generation sequencing derived tumor features to accurately predict DNA mismatch repair status. Walker, Romy, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Makalic, Enes, Clendenning, Mark, Como, Julia, Preston, Susan, Joseland, Sharelle, Pope, Bernard J., Hutchinson, Ryan, Kasem, Kais, Walsh, Michael D., Macrae, Finlay A., Win, Aung K., Hopper, John L., Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M., O’Sullivan, Dylan E., Brenner, Darren R., Gallinger, Steven, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.. 2022.

[10.1101/2022.06.20.22276419]  

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures. Georgeson, Peter, Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Steinfelder, Robert S., Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Amitay, Efrat L., Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Gsur, Andrea, Gunter, Marc J., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Limburg, Paul, Manson, JoAnn E., Moreno, Victor, Nassir, Rami, Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Phipps, Amanda I., Potter, John D., Schoen, Robert E., Sun, Wei, Toland, Amanda E., Trinh, Quang M., Ugai, Tomotaka, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Jenkins, Mark A., Thibodeau, Stephen N., Winship, Ingrid M., Peters, Ulrike, Buchanan, Daniel D.. Nature Communications. 2022.

[10.1038/s41467-022-30916-1]  

Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions. Baptista, Rodrigo P., Li, Yiran, Sateriale, Adam, Sanders, Mandy J., Brooks, Karen L., Tracey, Alan, Ansell, Brendan R.E., Jex, Aaron R., Cooper, Garrett W., Smith, Ethan D., Xiao, Rui, Dumaine, Jennifer E., Georgeson, Peter, Pope, Bernard J., Berriman, Matthew, Striepen, Boris, Cotton, James A., Kissinger, Jessica C.. Genome Research. 2021.

[10.1101/gr.275325.121]  

MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancer. McCoy, Patrick, Mangiola, Stefano, Macintyre, Geoff, Hutchinson, Ryan, Tran, Ben, Pope, Bernard, Georgeson, Peter, Hong, Matthew K. H., Kurganovs, Natalie, Lunke, Sebastian, Clarkson, Michael J., Cmero, Marek, Kerger, Michael, Stuchbery, Ryan, Chow, Ken, Haviv, Izhak, Ryan, Andrew, Costello, Anthony J., Corcoran, Niall M., Hovens, Christopher M.. Prostate Cancer and Prostatic Diseases. 2021.

[10.1038/s41391-021-00379-4]  

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers. Georgeson, Peter, Pope, Bernard J, Rosty, Christophe, Clendenning, Mark, Mahmood, Khalid, Joo, Jihoon E, Walker, Romy, Hutchinson, Ryan A, Preston, Susan, Como, Julia, Joseland, Sharelle, Win, Aung Ko, Macrae, Finlay A, Hopper, John L, Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M, O’Sullivan, Dylan E, Brenner, Darren R, Gallinger, Steve, Jenkins, Mark A, Winship, Ingrid M, Buchanan, Daniel D. Gut. 2021.

[10.1136/gutjnl-2019-320462]  

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer. Chan, James M., Clendenning, Mark, Joseland, Sharelle, Georgeson, Peter, Mahmood, Khalid, Walker, Romy, Como, Julia, Joo, Jihoon E., Preston, Susan, Hutchinson, Ryan A., Pope, Bernard J., Metz, Andrew, Beard, Catherine, Purvis, Rebecca, Arnold, Julie, Vijay, Varnika, Konycheva, Galina, Atkinson, Nathan, Parry, Susan, Jenkins, Mark A., Macrae, Finlay A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.. Familial Cancer. 2021.

[10.1007/s10689-021-00283-9]  

DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer. Joo, Jihoon E., Clendenning, Mark, Wong, Ee Ming, Rosty, Christophe, Mahmood, Khalid, Georgeson, Peter, Winship, Ingrid M., Preston, Susan G., Win, Aung Ko, Dugué, Pierre-Antoine, Jayasekara, Harindra, English, Dallas, Macrae, Finlay A., Hopper, John L., Jenkins, Mark A., Milne, Roger L., Giles, Graham G., Southey, Melissa C., Buchanan, Daniel D.. Cancers. 2021.

[10.3390/cancers13112589]  

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. Pope, Bernard J., Clendenning, Mark, Rosty, Christophe, Mahmood, Khalid, Georgeson, Peter, Joo, Jihoon E., Walker, Romy, Hutchinson, Ryan A., Jayasekara, Harindra, Joseland, Sharelle, Como, Julia, Preston, Susan, Spurdle, Amanda B., Macrae, Finlay A., Win, Aung K., Hopper, John L., Jenkins, Mark A., Winship, Ingrid M., Buchanan, Daniel D.. The Journal of Molecular Diagnostics. 2021.

[10.1016/j.jmoldx.2020.12.003]  

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival. Zaidi, Syed H., Harrison, Tabitha A., Phipps, Amanda I., Steinfelder, Robert, Trinh, Quang M., Qu, Conghui, Banbury, Barbara L., Georgeson, Peter, Grasso, Catherine S., Giannakis, Marios, Adams, Jeremy B., Alwers, Elizabeth, Amitay, Efrat L., Barfield, Richard T., Berndt, Sonja I., Borozan, Ivan, Brenner, Hermann, Brezina, Stefanie, Buchanan, Daniel D., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Connolly, Charles M., Drew, David A., Farris, Alton Brad, Figueiredo, Jane C., French, Amy J., Fuchs, Charles S., Garraway, Levi A., Gruber, Steve, Guinter, Mark A., Hamilton, Stanley R., Harlid, Sophia, Heisler, Lawrence E., Hidaka, Akihisa, Hopper, John L., Huang, Wen-Yi, Huyghe, Jeroen R., Jenkins, Mark A., Krzyzanowski, Paul M., Lemire, Mathieu, Lin, Yi, Luo, Xuemei, Mardis, Elaine R., McPherson, John D., Miller, Jessica K., Moreno, Victor, Mu, Xinmeng Jasmine, Nishihara, Reiko, Papadopoulos, Nickolas, Pasternack, Danielle, Quist, Michael J., Rafikova, Adilya, Reid, Emma E. G., Shinbrot, Eve, Shirts, Brian H., Stein, Lincoln D., Teney, Cherie D., Timms, Lee, Um, Caroline Y., Van Guelpen, Bethany, Van Tassel, Megan, Wang, Xiaolong, Wheeler, David A., Yung, Christina K., Hsu, Li, Ogino, Shuji, Gsur, Andrea, Newcomb, Polly A., Gallinger, Steven, Hoffmeister, Michael, Campbell, Peter T., Thibodeau, Stephen N., Sun, Wei, Hudson, Thomas J., Peters, Ulrike. Nature Communications. 2020.

[10.1038/s41467-020-17386-z]  

Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software. Georgeson, Peter, Syme, Anna, Sloggett, Clare, Chung, Jessica, Dashnow, Harriet, Milton, Michael, Lonsdale, Andrew, Powell, David, Seemann, Torsten, Pope, Bernard. GigaScience. 2019.

[10.1093/gigascience/giz109]  

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome. Georgeson, Peter, Walsh, Michael D., Clendenning, Mark, Daneshvar, Simin, Pope, Bernard J., Mahmood, Khalid, Joo, Jihoon E., Jayasekara, Harindra, Jenkins, Mark A., Winship, Ingrid M., Buchanan, Daniel D.. Molecular Genetics & Genomic Medicine. 2019.

[10.1002/mgg3.781]  

Annotation of theGiardiaproteome through structure-based homology and machine learning. Ansell, Brendan R E, Pope, Bernard J, Georgeson, Peter, Emery-Corbin, Samantha J, Jex, Aaron R. GigaScience. 2018.

[10.1093/gigascience/giy150]  

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data. Jung, Chol-Hee, Park, Daniel, Georgeson, Peter, Mahmood, Khalid, Milne, Roger, Southey, Melissa, Pope, Bernard. International Journal of Molecular Sciences. 2018.

[10.3390/ijms19103172]  

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. Mahmood, Khalid, Jung, Chol-hee, Philip, Gayle, Georgeson, Peter, Chung, Jessica, Pope, Bernard J., Park, Daniel J.. Human Genomics. 2017.

[10.1186/s40246-017-0104-8]  

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. Tan, Tiong Yang, Dillon, Oliver James, Stark, Zornitza, Schofield, Deborah, Alam, Khurshid, Shrestha, Rupendra, Chong, Belinda, Phelan, Dean, Brett, Gemma R., Creed, Emma, Jarmolowicz, Anna, Yap, Patrick, Walsh, Maie, Downie, Lilian, Amor, David J., Savarirayan, Ravi, McGillivray, George, Yeung, Alison, Peters, Heidi, Robertson, Susan J., Robinson, Aaron J., Macciocca, Ivan, Sadedin, Simon, Bell, Katrina, Oshlack, Alicia, Georgeson, Peter, Thorne, Natalie, Gaff, Clara, White, Susan M.. JAMA Pediatrics. 2017.

[10.1001/jamapediatrics.2017.1755]  

An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐ Related Homeodomain Transcription Factor ARX. Mattiske, Tessa, Moey, Ching, Vissers, Lisenka E., Thorne, Natalie, Georgeson, Peter, Bakshi, Madhura, Shoubridge, Cheryl. Human Mutation. 2017.

[10.1002/humu.23190]  

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Walsh, Maie, Bell, Katrina M., Chong, Belinda, Creed, Emma, Brett, Gemma R., Pope, Kate, Thorne, Natalie P., Sadedin, Simon, Georgeson, Peter, Phelan, Dean G., Day, Timothy, Taylor, Jessica A., Sexton, Adrienne, Lockhart, Paul J., Kiers, Lynette, Fahey, Michael, Macciocca, Ivan, Gaff, Clara L., Oshlack, Alicia, Yiu, Eppie M., James, Paul A., Stark, Zornitza, Ryan, Monique M.. Annals of Clinical and Translational Neurology. 2017.

[10.1002/acn3.409]  

Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells. Pope, Bernard J., Mahmood, Khalid, Jung, Chol-hee, Georgeson, Peter, Park, Daniel J.. Genomics Data. 2017.

[10.1016/j.gdata.2016.11.007]  

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing. Park, Daniel J., Li, Roger, Lau, Edmund, Georgeson, Peter, Nguyen-Dumont, Tú, Pope, Bernard J.. BMC Bioinformatics. 2016.

[10.1186/s12859-016-1014-9]  

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Stark, Zornitza, Tan, Tiong Y., Chong, Belinda, Brett, Gemma R., Yap, Patrick, Walsh, Maie, Yeung, Alison, Peters, Heidi, Mordaunt, Dylan, Cowie, Shannon, Amor, David J., Savarirayan, Ravi, McGillivray, George, Downie, Lilian, Ekert, Paul G., Theda, Christiane, James, Paul A., Yaplito-Lee, Joy, Ryan, Monique M., Leventer, Richard J., Creed, Emma, Macciocca, Ivan, Bell, Katrina M., Oshlack, Alicia, Sadedin, Simon, Georgeson, Peter, Anderson, Charlotte, Thorne, Natalie, Gaff, Clara, White, Susan M.. Genetics in Medicine. 2016.

[10.1038/gim.2016.1]