G
Gene Koh
Researcher at University of Cambridge
Publications - 10
Citations - 351
Gene Koh is an academic researcher from University of Cambridge. The author has contributed to research in topics: DNA repair & Genome. The author has an hindex of 4, co-authored 8 publications receiving 93 citations. Previous affiliations of Gene Koh include Wellcome Trust Sanger Institute.
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Journal ArticleDOI
A practical framework and online tool for mutational signature analyses show intertissue variation and driver dependencies
Andrea Degasperi,Andrea Degasperi,Tauanne Dias Amarante,Tauanne Dias Amarante,Jan Czarnecki,Jan Czarnecki,Scott Shooter,Scott Shooter,Xueqing Zou,Xueqing Zou,Dominik Glodzik,Dominik Glodzik,Dominik Glodzik,Sandro Morganella,Arjun Scott Nanda,Cherif Badja,Cherif Badja,Gene Koh,Gene Koh,Sophie Momen,Ilias Georgakopoulos-Soares,João M. L. Dias,Jamie Young,Jamie Young,Yasin Memari,Helen Davies,Helen Davies,Serena Nik-Zainal,Serena Nik-Zainal +28 more
TL;DR: Applying these methods on 3,107 whole genome sequenced (WGS) primary cancers of 21 organs reveals known signatures and nine previously undescribed rearrangement signatures, highlighting inter-organ variability of signatures and presenting a way of visualizing that diversity.
Journal ArticleDOI
Mutational signatures: emerging concepts, caveats and clinical applications.
TL;DR: In this article, the authors present a review of recent conceptual advances in the field of mutational signatures, highlighting some of the caveats associated with using the mutational signature frameworks and highlighting the latest experimental insights.
Journal ArticleDOI
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
Andrea Degasperi,Xueqing Zou,Tauanne Dias Amarante,Andrea Martínez-Martínez,Gene Koh,João M. L. Dias,Laura Heskin,Lucia Chmelova,Giuseppe Rinaldi,Valerie Ya Wen Wang,Arjun Scott Nanda,Aaron Bernstein,Sophie Momen,Jamie Young,Daniel Perez-Gil,Yasin Memari,Cherif Badja,Scott Shooter,Jan Czarnecki,Matthew A. Brown,Helen Davies,Serena Nik-Zainal +21 more
TL;DR: Degasperi et al. as mentioned in this paper performed mutational signature analyses on 12,222 whole-genome-sequenced tumor-normal matched pairs from patients recruited via the UK National Health Service (NHS).
Journal ArticleDOI
Mutational signatures: experimental design and analytical framework
TL;DR: It is envisioned that improved next-generation sequencing technologies and molecular cell biology approaches will usher in the next generation of studies into the etiologies and mechanisms of mutational patterns uncovered in cancers.
Journal ArticleDOI
Transcription-coupled repair and mismatch repair contribute towards preserving genome integrity at mononucleotide repeat tracts
Ilias Georgakopoulos-Soares,Ilias Georgakopoulos-Soares,Gene Koh,Gene Koh,Sophie Momen,Josef Jiricny,Martin Hemberg,Serena Nik-Zainal +7 more
TL;DR: A method is described to investigate transcriptional strand asymmetries and sequence-context specific mechanisms that alter the likelihood of insertions and deletions, including transcription-coupled nucleotide excision repair (TC-NER).