… Short tandem repeats are one of the richest sources of genotypic variation, but were long …
of neurodegenerative repeat expansion diseases such as Huntington's disease. However, we …

… The disease penetrance is also influenced by the repeat length in … disease, in which alleles
that are a few repeat copies short of the full mutation are associated with reduced disease …

… of new repeat disease motifs, the focus of … disease mutation discovery and our understanding
of pathogenic mechanisms. We begin with a brief overview of the history of repeat disease …

… Remarkably, the most frequent TBS type in these three cancers is GC/GC>AA/TT, as we
observed in the inherited disease mutation dataset. In contrast to CC/GG>TT/AA and CC/GG>AA/…

… Although daSTRs exhibit tremendous diversity in sequence, gene body location, and mutation-…
locations in the genome with increased susceptibility to STR instability in human disease. …

… and identification of probable targets for disease causing variants may be useful. … for disease
related mutations and may therefore be good candidates for resequencing studies. Tandem …

… De Novo STR mutations Short Tandem Repeats are a common etiology of de novo
disease-causing mutations in people [13]. By better characterizing these de novo STRs, new …

… In addition to short tandem repeat diseases, repeat copy … disease-causing mutations in
tandem repeat regions which have been overlooked by short read sequencing in human disease. …

… and rarely directly related to inherited diseases [1]. However, some STRs, especially
those where a single repeat unit encodes for an amino acid, are disease associated. A well-known …

… , FXN, or DMPK disease STR locus, or the spinocerebellar ataxia disease STR panel, our …
We performed clinical PCR tests on seven (out of 10) full-mutation samples identified by our …