Tandem repeats mediating genetic plasticity in health and disease

AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …

Functional mechanisms of microsatellite DNA in eukaryotic genomes

ATM Bagshaw - Genome biology and evolution, 2017 - academic.oup.com
Microsatellite repeat DNA is best known for its length mutability, which is implicated in
several neurological diseases and cancers, and often exploited as a genetic marker. Less …

Characterization of genome-wide STR variation in 6487 human genomes

Y Shi, Y Niu, P Zhang, H Luo, S Liu, S Zhang… - Nature …, 2023 - nature.com
Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome.
Many STR loci have been associated with a range of human genetic disorders. However …

Abundant contribution of short tandem repeats to gene expression variation in humans

M Gymrek, T Willems, A Guilmatre, H Zeng, B Markus… - Nature …, 2016 - nature.com
The contribution of repetitive elements to quantitative human traits is largely unknown. Here
we report a genome-wide survey of the contribution of short tandem repeats (STRs), which …

Profiling the genome-wide landscape of tandem repeat expansions

N Mousavi, S Shleizer-Burko, R Yanicky… - Nucleic acids …, 2019 - academic.oup.com
Tandem repeat (TR) expansions have been implicated in dozens of genetic diseases,
including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore …

The landscape of human STR variation

T Willems, M Gymrek, G Highnam, D Mittelman… - Genome …, 2014 - genome.cshlp.org
Short tandem repeats are among the most polymorphic loci in the human genome. These
loci play a role in the etiology of a range of genetic diseases and have been frequently …

Characterization and visualization of tandem repeats at genome scale

E Dolzhenko, A English, H Dashnow… - Nature …, 2024 - nature.com
Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

[PDF][PDF] Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes

H Tang, EF Kirkness, C Lippert, WH Biggs… - The American Journal of …, 2017 - cell.com
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 …

Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species

M Verbiest, M Maksimov, Y Jin… - Journal of …, 2023 - academic.oup.com
Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA.
Along with single nucleotide polymorphisms and large structural variations, they are among …

A genomic view of short tandem repeats

M Gymrek - Current opinion in genetics & development, 2017 - Elsevier
Short tandem repeats (STRs) are some of the fastest mutating loci in the genome. Tools for
accurately profiling STRs from high-throughput sequencing data have enabled genome …