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Mutational signatures: experimental design and analytical framework.

Accepted version
Peer-reviewed

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Type

Article

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Authors

Koh, Gene 
Zou, Xueqing 

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

Keywords

Animals, Biomarkers, Tumor, Genetic Testing, Humans, Mutation Rate, Neoplasms, Practice Guidelines as Topic, Whole Genome Sequencing

Journal Title

Genome Biol

Conference Name

Journal ISSN

1474-7596
1474-760X

Volume Title

21

Publisher

Springer Science and Business Media LLC

Rights

All rights reserved
Sponsorship
Wellcome Trust (101126/Z/13/Z)
Cancer Research UK (23916)
Cancer Research UK (23433)
Wellcome Trust (109915_A_15_Z)