… disease risk. Here we focus on a class of very short tandem repeats and their contribution to
disease … likely targets for disease causing mutations by showing that disease-related genes …

… The first genetic disease reported in association with the dynamic mutation of an STR
was … This disease is due to the dynamic mutation of a CCG trinucleotide repeat in the 5'-…

… with human neurodegenerative diseases. In order to deepen our knowledge of these
diseases and broaden STR application, it is essential to understand the STR mutation process in …

… Using assumptions for the sizes and numbers of generations in the Finnish population since
the original disease mutation, STR mutation rates ranging from 3 X 10~4 to 4 X 10~3 were …

… and may contribute more de novo mutations than any other variant … to Mendelian diseases,
complex traits, and cancer. … de novo mutation based on predictions of the underlying mutation …

… Short tandem repeats are often polymorphic as a result of strand slippage during DNA replication
and are a common source of rare genetic diseases… , the Huntington disease mutation is …

… 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 …

… reads and does not accurately describe large expansion mutations observed in conditions
such as Huntington's disease or fragile X syndrome. We show that our constraint metric can …

… Improving our understanding of these mutations would increase our knowledge of the … loci
that contribute to disease. To estimate the genome-wide pattern of mutations at STR loci, we …

… mutations provides an opportunity to investigate the contribution of short tandem repeats to
the naturally occurring mutations … surrounding 625 disease-causing mutations in the coding …