Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

IS Rajan-Babu, E Dolzhenko, MA Eberle… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …

[HTML][HTML] Native functions of short tandem repeats

SE Wright, PK Todd - Elife, 2023 - elifesciences.org
Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …

[HTML][HTML] 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
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 …

[HTML][HTML] Challenges facing repeat expansion identification, characterisation, and the pathway to discovery

JL Read, KC Davies, GC Thompson… - Emerging Topics in …, 2023 - portlandpress.com
Tandem repeat DNA sequences constitute a significant proportion of the human genome.
While previously considered to be functionally inert, these sequences are now broadly …

[HTML][HTML] Selection pressure on human STR loci and its relevance in repeat expansion disease

MK Shimada, R Sanbonmatsu… - Molecular Genetics and …, 2016 - Springer
Abstract Short Tandem Repeats (STRs) comprise repeats of one to several base pairs.
Because of the high mutability due to strand slippage during DNA synthesis, rapid …

Fourteen and counting: unraveling trinucleotide repeat diseases

CJ Cummings, HY Zoghbi - Human molecular genetics, 2000 - academic.oup.com
The pathological expansion of unstable trinucleotide repeats currently is known to cause 14
neurological diseases. Over the past several years, researchers have concentrated on the …

The role of tandem repeat expansions in brain disorders

MA Panoyan, FR Wendt - Emerging Topics in Life Sciences, 2023 - portlandpress.com
The human genome contains numerous genetic polymorphisms contributing to different
health and disease outcomes. Tandem repeat (TR) loci are highly polymorphic yet under …

[HTML][HTML] Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data

RM Tankard, MF Bennett, P Degorski… - The American Journal of …, 2018 - cell.com
Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic.
These can present with overlapping clinical phenotypes, making molecular diagnosis …

The biological effects of simple tandem repeats: lessons from the repeat expansion diseases

K Usdin - Genome research, 2008 - genome.cshlp.org
Tandem repeats are common features of both prokaryote and eukaryote genomes, where
they can be found not only in intergenic regions but also in both the noncoding and coding …

[HTML][HTML] An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …