Bernard Pope

Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveals expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions.

Rodrigo P Baptista, Yiran Li, Adam Sateriale, Karen L Brooks, Alan Tracey, Mandy J Sanders, Brendan RE Ansell, Aaron R Jex, Garrett W Cooper, Ethan D Smith, Rui Xiao, Jennifer E Dumaine, Peter Georgeson, Bernard Pope, Matthew Berriman, Boris Striepen, James A Cotton, Jessica C Kissinger

Journal article  |  2021  |  Genome Res

Cryptosporidiosis is a leading cause of waterborne diarrheal disease globally and an important contributor to mortality in infants..

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, et al.

Journal article  |  2021  |  GUT

OBJECTIVE: Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene MUTYH un..

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 KH 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

Journal article  |  2021  |  PROSTATE CANCER AND PROSTATIC DISEASES

BACKGROUND: Recent publications have shown patients with defects in the DNA mismatch repair (MMR) pathway driven by either MSH2 or..

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

Journal article  |  2021  |  JOURNAL OF MOLECULAR DIAGNOSTICS

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or so..

Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

Fadwa A Elsayed, Judith E Grolleman, Abiramy Ragunathan, Daniel D Buchanan, Tom van Wezel, Richarda M de Voer

Journal article  |  2020  |  GASTROENTEROLOGY

Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression

Edmund Lau, Patrick McCoy, Fairleigh Reeves, Ken Chow, Michael Clarkson, Edmond M Kwan, Kate Packwood, Helen Northen, Miao He, Zoya Kingsbury, Stefano Mangiola, Michael Kerger, Marc A Furrer, Helen Crowe, Anthony J Costello, David J McBride, Mark T Ross, Bernard Pope, Christopher M Hovens, Niall M Corcoran

Journal article  |  2020  |  GENOME MEDICINE

BACKGROUND: DNA originating from degenerate tumour cells can be detected in the circulation in many tumour types, where it can be ..

SNPPar: identifying convergent evolution and other homoplasies from microbial whole-genome alignments

David Edwards, Sebastián Duchêne, Bernard Pope, Kathryn Holt

Journal article  |  2020

Homoplasic single nucleotide polymorphisms (SNPs) are considered important signatures of strong (positive) selective pressure, and..

HiTIME: An efficient model-selection approach for the detection of unknown drug metabolites in LC-MS data

Michael G Leeming, Andrew P Isaac, Luke Zappia, Richard AJ O'Hair, William A Donald, Bernard J Pope

Journal article  |  2020  |  SOFTWAREX

Rare germline genetic variants and risk of aggressive prostate cancer

Tu Nguyen-Dumont, Robert J MacInnis, Jason A Steen, Derrick Theys, Helen Tsimiklis, Fleur Hammet, Maryam Mahmoodi, Bernard J Pope, Daniel J Park, Khalid Mahmood, Gianluca Severi, Damien Bolton, Roger L Milne, Graham G Giles, Melissa C Southey

Journal article  |  2020  |  INTERNATIONAL JOURNAL OF CANCER

Few genetic risk factors have been demonstrated to be specifically associated with aggressive prostate cancer (PrCa). Here, we rep..

Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome

Bernard Pope, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Peter Georgeson, Jihoon Joo, Romy Walker, Ryan Hutchinson, Harindra Jayasekara, Sharelle Joseland, Julia Como, Susan Preston, Amanda Spurdle, Finlay Macrae, Aung Win, John Hopper, Mark Jenkins, Ingrid Winship, Daniel Buchanan

Journal article  |  2020

Background People who develop mismatch repair (MMR) deficient cancer in the absence of a germline MMR gene pathogenic variant or h..