… Short tandem repeats are often polymorphic as a result of strand slippage during DNA
replication and are a common source of rare genetic diseases. … Additionally, STR mutations are …

… 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 repeat (STR) expansion disorders are an important cause of human neurological
disease… by other mutations such as missense and frameshift mutations. Interestingly, …

… 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 …

… 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 …

… 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. …

… 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. …

… , 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 …