Prof Bernard Pope
Professor and Bioinformatics Lead
Australian Biocommons
94 Scholarly works
29 Projects
HIGHLIGHTS
2026
Journal article
Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencing
DOI: 10.1007/s10689-026-00588-72026
Journal article
The Landscape of Prostate Tumour Methylation.
DOI: 10.1158/2159-8290.CD-25-07612026
Research contracts (non-grants)
UoM and Baker Collaboration Agreement 2025
2025
Journal article
Abstract C021: Characterizing the clinicopathological, genomic and spatial transcriptomic features of colibactin-induced colorectal cancers
DOI: 10.1158/1557-3265.earlyonsetca25-c0212025
Journal article
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers
DOI: 10.1053/j.gastro.2024.12.0272024
Research contracts (non-grants)
Genomic Data Commons
2018
Research Grant
Translating Genomics-Driven Bioinformatics Into Improved Prevention and Treatment of Colorectal Cancer
RECENT SCHOLARLY WORKS
2025
Journal article
The Germline and Somatic Origins of Prostate Cancer Heterogeneity
DOI: 10.1158/2159-8290.CD-23-08822025
Journal article
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
DOI: 10.1016/j.tranon.2024.1022662025
Journal article
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry
DOI: 10.1038/s41467-025-63865-62024
Journal article
Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma
DOI: 10.3390/cancers161729852024
Journal article
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.
DOI: 10.1101/2024.08.08.243117132024
Journal article
BSBM-04 THE MULTI-OMIC LANDSCAPE OF SOMATIC VARIATION ACROSS A PAN-CANCER COHORT OF BRAIN METASTASES
DOI: 10.1093/noajnl/vdae090.004
RECENT PROJECTS
2026
Research contracts (non-grants)
EGA Data Processing Agreement - EMBL and CRG
2024
Research contracts (non-grants)
A National Repository for Human Omics Research Data Connected to Computing Resources