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

… 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 …

… 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 …

… Background: Short tandem repeats are an important source … , such as Huntington's disease
and spinocerebellar ataxias. … We compared four different short tandem repeats genotyping …

… UGGAA repeat RNA suppresses the toxic effects of the ALS-causing TDP43 mutation. This
… the TDP43 mutation could be responsible for the neurodegenerative disease phenotypes [39]…

… 3d), we find that the mutation excess in probands increases for mutations resulting in rarer
… resource for further characterizing TR mutations and their role in ASD and other diseases. …

… Structural variants (SVs) and short tandem repeats (STRs) … of structural variant classes and
short tandem repeats that are … Traits linked to eSVs and eSTRs included diseases such as …

… Forensic DNA profiling utilizes autosomal short tandem … directly causing or predicting
disease. Such a demonstration … causative or predictive of disease. Regardless, the likelihood of …

… tandem repeats (n = 31,793 tandem repeat loci); blue bars represent known simple sequence
repeats (n = 1,031,708 known short tandem … to known disease-causing tandem repeat loci, …