Bernie Pope

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: medicine in the post-genomic era

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

Abstract Homoplasic single nucleotide polymorphisms (SNPs) are considered important signatures of strong (positive) selective pres..

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

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

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

Tu Nguyen-Dumont, Jason A Steen, Ingrid Winship, Daniel J Park, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Mark Clendenning, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2020  |  Familial Cancer

The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to infor..

Genetic testing in Poland and Ukraine: should comprehensive germline testing ofBRCA1andBRCA2be recommended for women with breast and ovarian cancer?

Tu Nguyen-Dumont, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Jason A Steen, Derrick Theys, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Agnieszka Stembalska, Karolina Pesz, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey, Aleksander Myszka

Journal article  |  2020  |  Genetical Research

PURPOSE: To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukr..

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

Journal article  |  2019  |  GigaScience

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

Fleur Hammet, Khalid Mahmood, Thomas R Green, Nguyen-Dumont Tu, Melissa C Southey, Daniel D Buchanan, Andrew Lonie, Katherine L Nathanson, Fergus J Couch, Bernard J Pope, Daniel J Park

Journal article  |  2019  |  BioTechniques

We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencing libraries that offers a low-..

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

Journal article  |  2019  |  Molecular Genetics and Genomic Medicine