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Mutational signatures: experimental design and analytical framework

Published version
Peer-reviewed

Change log

Authors

Koh, Gene 
Zou, Xueqing 

Abstract

Abstract: Mutational signatures provide a powerful alternative for understanding the pathophysiology of cancer. Currently, experimental efforts aimed at validating and understanding the etiologies of cancer-derived mutational signatures are underway. In this review, we highlight key aspects of mutational signature experimental design and describe the analytical framework. We suggest guidelines and quality control measures for handling whole-genome sequencing data for mutational signature analyses and discuss pitfalls in interpretation. We envision 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.

Description

Funder: Dr. Josef Steiner Krebsstiftung; doi: http://dx.doi.org/10.13039/100008669

Keywords

Review

Journal Title

Genome Biology

Conference Name

Journal ISSN

1474-760X

Volume Title

21

Publisher

BioMed Central
Sponsorship
Cancer Research UK (C60100/A23916)
Medical Research Council (Grant-in-Aid MRC Cancer Unit)
Wellcome Trust (4-year PhD Studentship (Sanger Institute))