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Mutational Signatures: From Methods to Mechanisms

Yoo-Ah Kim1, Mark D M Leiserson2, Priya Moorjani3

  • 1National Center of Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894, USA;

Annual Review of Biomedical Data Science
|September 1, 2021
PubMed

Insights

Mutations drive evolution and disease, arising from DNA errors and damage. Advanced sequencing and computational methods now allow detailed study of these mutational processes.

Area of Science:

  • Genetics and Molecular Biology
  • Evolutionary Biology
  • Cancer Research

Background:

  • Mutations are fundamental to evolution but also cause diseases like cancer.
  • They originate from DNA processing errors, natural DNA damage, and impaired DNA repair.
  • The study of mutational processes has rapidly advanced since 2012.

Purpose of the Study:

  • To explore the origins and mechanisms of mutations.
  • To highlight the role of mutations in disease, particularly cancer.
  • To discuss the impact of high-throughput sequencing on this research field.

Main Methods:

  • Utilizing high-throughput sequencing to generate large-scale genomic datasets.
  • Applying computational approaches to analyze mutational signatures and processes.
  • Investigating the interplay between DNA processing, damage, and repair.

Main Results:

  • Identified various sources contributing to mutation occurrence.
  • Demonstrated the significance of mutational processes in understanding disease etiology.
  • Showcased the power of genomic data in dissecting complex biological questions.

Conclusions:

  • Mutational processes are key to understanding both evolution and disease.
  • High-throughput sequencing and computational tools have revolutionized the study of mutations.
  • This field holds significant promise for future biomedical applications.
Keywords:
cancercancer evolutioncomputational modelsmutagenic processesmutational signaturespopulation genetics

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