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.

中文翻译：

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突变特征：实验设计和分析框架


突变特征为理解癌症的病理生理学提供了强有力的替代方案。目前，旨在验证和理解癌症衍生突变特征的病因学的实验工作正在进行中。在这篇综述中，我们强调了突变特征实验设计的关键方面并描述了分析框架。我们提出了处理全基因组测序数据以进行突变特征分析的指南和质量控制措施，并讨论了解释中的陷阱。我们预计，改进的下一代测序技术和分子细胞生物学方法将引领下一代对癌症中发现的突变模式的病因和机制的研究。