Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

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

Short tandem repeats (STRs) are commonly defined as short runs of repetitive nucleotides,
consisting of tandemly repeating 2–6-bp motif units, which are ubiquitously distributed …

Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories.
Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X …

Variable number tandem repeats (VNTRs) are composed of large tandemly repeated motifs,
many of which are highly polymorphic in copy number. However, because of their large size …

Background Screening for short tandem repeat (STR) expansions in next-generation
sequencing data can enable diagnosis, optimal clinical management/treatment, and …

Purpose Expansions of a subset of short tandem repeats (STRs) have been implicated in
approximately 30 different human genetic disorders. Despite extensive application of exome …

Background The objective of this study was to determine the prevalence of the GGC‐repeat
expansion in NOTCH2NLC in whites presenting with movement disorders. Methods We …

Short-read next generation sequencing (NGS) has become the predominant first-line
technique used to diagnose patients with rare genetic conditions. Inherent limitations of …

Approximately three percent of the human genome is occupied by microsatellites: a type of
short tandem repeat (STR). Microsatellites have well established effects on (a) the genetic …