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 …

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] 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 …

Large-scale analysis of tandem repeat variability in the human genome

J Duitama, A Zablotskaya, R Gemayel… - Nucleic acids …, 2014 - academic.oup.com
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 …

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 …

Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'

AJ Hannan - Trends in genetics, 2010 - cell.com
A problem of 'missing heritability'has been identified following recent genome-wide
association (GWA) studies of single nucleotide polymorphisms (SNPs) associated with …

Variable tandem repeats accelerate evolution of coding and regulatory sequences

R Gemayel, MD Vinces, M Legendre… - Annual review of …, 2010 - annualreviews.org
Genotype-to-phenotype mapping commonly focuses on two major classes of mutations:
single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we …

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 …

[HTML][HTML] Beyond junk-variable tandem repeats as facilitators of rapid evolution of regulatory and coding sequences

R Gemayel, J Cho, S Boeynaems, KJ Verstrepen - Genes, 2012 - mdpi.com
Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms (SNPs) have been
the major focus of most large-scale comparative genomics studies to date. Here, we discuss …

[PDF][PDF] 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 …