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 mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. To estimate the genome-wide pattern of mutations at STR loci, we analyze blood-derived whole-genome sequencing data for 544 individuals from 29 three-generation CEPH pedigrees. These pedigrees contain both sets of grandparents, the parents, and an average of 9 grandchildren per family.

Results

We use HipSTR to identify de novo STR mutations in the 2nd

SUBMITTER: Steely CJ 

PROVIDER: S-EPMC9743774 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature