Tandem repeat (TR) expansions have been implicated in dozens of genetic diseases,
including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore …

Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to
detect pathogenic repeat expansions genome-wide. Here, we report robust detection of …

Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection
is challenging with short-read DNA sequencing data since supporting reads are often …

Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are
often used in forensics and population genetics and are also the underlying cause of many …

Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in
dozens of Mendelian diseases. Most existing tools for detecting STR variation with short …

Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic.
These can present with overlapping clinical phenotypes, making molecular diagnosis …

Tandem repeats are short DNA sequences that are repeated head-to-tail with a propensity
to be variable. They constitute a significant proportion of the human genome, also occurring …