Article

The Mutational Dynamics of Short Tandem Repeats in Large, Multigenerational Families

2021-11-23

Abstract excerpt

Short tandem repeats (STRs) are tandemly repeated sequences of 1-6 bp motifs. 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 mutations would increase our knowledge of the mutational dynamics of the genome an...

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Literature Corpus work: fc54aff3-42fa-510a-ace3-0c0da422f4cc
DOI: 10.1101/2021.11.22.469627

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