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Targeted DNA Methylation Analysis by Next-generation Sequencing
Published on: February 24, 2015
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MutSeqR: an open source R package for standardized analysis of error-corrected next-generation sequencing data in
Annette E Dodge1,2, Andrew Williams1, Danielle P M LeBlanc1
1Environmental Health Science and Research Bureau, Health Canada, Ottawa, ON K1A 0K9, Canada.
Bioinformatics Advances
|November 27, 2025
Summary
MutSeqR is a new R package for analyzing error-corrected next-generation sequencing data in genetic toxicology. It provides standardized tools for mutation analysis, improving reproducibility and comparability in mutagenicity testing.
Area of Science:
- Genetics
- Toxicology
- Bioinformatics
Background:
- Error-corrected next-generation sequencing (ECS) is vital for genetic toxicology.
- Lack of standardized bioinformatic tools hinders data reproducibility and interpretation.
Purpose of the Study:
- To introduce MutSeqR, an open-source R package for analyzing ECS mutation data.
- To provide standardized workflows for genetic toxicology studies using ECS.
Main Methods:
- MutSeqR offers variant filtering, comparative mutation frequency analysis, and dose-response assessment.
- Includes mutation spectrum and clonality analyses.
- Demonstrated using published datasets from mice treated with polycyclic aromatic hydrocarbons.
Main Results:
- MutSeqR enables reproducible analysis across different ECS platforms.
- Facilitates comparative analysis of mutation frequencies and dose-response relationships.
- Supports research and regulatory applications in mutagenicity testing.
Conclusions:
- MutSeqR enhances the reliability and consistency of genetic toxicity assessments.
- Promotes standardized bioinformatic approaches for ECS data analysis.
- A valuable tool for researchers and regulatory bodies in genetic toxicology.

