[HTML][HTML] Polymorphic short tandem repeats make widespread contributions to blood and serum traits

J Margoliash, S Fuchs, Y Li, X Zhang, A Massarat… - Cell Genomics, 2023 - cell.com
Short tandem repeats (STRs) are genomic regions consisting of repeated sequences of 1–6
bp in succession. Single-nucleotide polymorphism (SNP)-based genome-wide association …

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 …

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 …

The overdue promise of short tandem repeat variation for heritability

MO Press, KD Carlson, C Queitsch - Trends in Genetics, 2014 - cell.com
Short tandem repeat (STR) variation has been proposed as a major explanatory factor in the
heritability of complex traits in humans and model organisms. However, we still struggle to …

The impact of short tandem repeat variation on gene expression

SF Fotsing, J Margoliash, C Wang, S Saini, R Yanicky… - Nature …, 2019 - nature.com
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans.
However, genome-wide studies of the effects of STRs on gene expression thus far have had …

[HTML][HTML] 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 …

[HTML][HTML] Properties of structural variants and short tandem repeats associated with gene expression and complex traits

D Jakubosky, M D'Antonio, MJ Bonder, C Smail… - Nature …, 2020 - nature.com
Structural variants (SVs) and short tandem repeats (STRs) comprise a broad group of
diverse DNA variants which vastly differ in their sizes and distributions across the genome …

Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits

B Rowland, S Venkatesh, M Tardaguila… - Human Molecular …, 2022 - academic.oup.com
Previous genome-wide association studies (GWAS) of hematological traits have identified
over 10 000 distinct trait-specific risk loci. However, at these loci, the underlying causal …

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 …

[HTML][HTML] Joint analysis of functional genomic data and genome-wide association studies of 18 human traits

JK Pickrell - The American Journal of Human Genetics, 2014 - cell.com
Annotations of gene structures and regulatory elements can inform genome-wide
association studies (GWASs). However, choosing the relevant annotations for interpreting …