Author

Bernard C. H. Lee

Queen Mary Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genomics· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Federico AbascaliD· 2 shared Henry Lee-SixiD· 2 shared Iñigo MartincorenaiD· 2 shared Mathijs Arnoud SandersiD· 2 shared Michael R. StrattoniD· 2 shared Peter J. CampbelliD· 2 shared Philip S. RobinsoniD· 2 shared Sigurgeir ÓlafssoniD· 2 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenomics

Federico AbascalORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Philip S. Robinson, Laura E. Thomas, Federico Abascal, Hyunchul Jung, Luke M. R. Harvey, Hannah D. West, Sigurgeir Ólafsson, Bernard C. H. Lee, Tim H. H. Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs Arnoud Sanders, Stefanie V. Lensing, , Michael R. Stratton

This study shows that inherited MUTYH mutations increase somatic mutation rates and specific mutational signatures in normal human cells, contributing to cancer risk without causing premature aging.

Nature Communications · Jul 8, 2022Peer-reviewedGenomics

Elevated somatic mutation burdens in normal human cells due to defective DNA polymerases

Philip S. Robinson, Tim H. H. Coorens, Claire Palles, Emily Mitchell, Federico Abascal, Sigurgeir Ólafsson, Bernard C. H. Lee, Andrew R. J. Lawson, Henry Lee-Six, Luiza Moore, Mathijs Arnoud Sanders, James Hewinson, Lynn M. Martin, Claudia Maria Assunta Pinna, Sara Galavotti, , Michael R. Stratton

The paper shows that germline mutations in POLE or POLD1 lead to elevated mutation burdens in normal human cells and tissues, but do not cause premature aging or other phenotypic features beyond early-onset cancer.

Nature Genetics · Sep 30, 2021Peer-reviewedGenomics