Repetitive DNA sequences known as tandem repeats (TRs) are linked to dozens of monogenic diseases and to cancer. We developed a computational method to characterize TRs using PacBio HiFi sequencing. This software can be used to discover and profile pathogenic repeat expansions and to catalog genetic and epigenetic variation in TR regions.
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References
English, A. et al. Benchmarking of small and large variants across tandem repeats. Preprint at bioRxiv https://doi.org/10.1101/2023.10.29.564632 (2023). This paper introduces a repeat catalog spanning approximately 8% of the human genome.
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This is a summary of: Dolzhenko, E. et al. Characterization and visualization of tandem repeats at genome scale Nat. Biotechnol. https://doi.org/10.1038/s41587-023-02057-3 (2024).
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TRGT-ing the dark genome to accurately characterize tandem repeats at scale. Nat Biotechnol (2024). https://doi.org/10.1038/s41587-023-02073-3
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DOI: https://doi.org/10.1038/s41587-023-02073-3
