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Updated: Jul 1, 2025

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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

Indhu-Shree Rajan-Babu1, Egor Dolzhenko2, Michael A Eberle2

  • 1Department of Medical Genetics, The University of British Columbia, and Children's & Women's Hospital, Vancouver, British Columbia, Canada. indhu.babu@bcchr.ca.

Nature Reviews. Genetics
|March 12, 2024
PubMed
Summary

Short tandem repeats (STRs), repetitive DNA sequences, can expand and cause neurological disorders. Non-canonical motifs within STRs influence disease severity and mechanisms by altering repeat stability and gene expression.

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