The mutational dynamics of short tandem repeats in large, multigenerational families

Abstract Background Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. Improving our understanding of these...

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Bibliographic Details
Main Authors: Cody J. Steely, W. Scott Watkins, Lisa Baird, Lynn B. Jorde
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Genome Biology
Subjects:
Online Access:https://doi.org/10.1186/s13059-022-02818-4