Native functions of short tandem repeats [PDF]
eLife, 2023 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 repeat expansions that cause syndromic human diseases are extensive, the ...
Shannon E Wright, Peter K Todd
doaj +4 more sources
Evolutionary Study of Protein Short Tandem Repeats in Protein Families [PDF]
Biomolecules, 2023 Tandem repeats in proteins are patterns of residues repeated directly adjacent to each other. The evolution of these repeats can be assessed by using groups of homologous sequences, which can help pointing to events of unit duplication or deletion.
Pablo Mier, Miguel A. Andrade-Navarro
doaj +3 more sources
Analysis of short tandem repeats by parallel DNA threading. [PDF]
PLoS ONE, 2009 The majority of studies employing short tandem repeats (STRs) require investigation of several of these genetic markers. As such, we demonstrate the feasibility of the trinucleotide threading (TnT) approach for scalable analysis of STRs.
Pawel Zajac +2 more
doaj +5 more sources
The repertoire of short tandem repeats across the tree of life [PDF]
Genome BiologyBackground Short tandem repeats (STRs) are widespread, dynamic repetitive elements with a number of biological functions and relevance to human diseases, genome plasticity and adaptation. However, their prevalence across taxa remains poorly characterized.
Nikol Chantzi +1 more
doaj +5 more sources
GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer’s disease [PDF]
Nature CommunicationsGWAS typically focus on SNPs, often excluding complex genetic variants, such as short tandem repeats. Here, we report the results of GWAS analyses systematically assessing the role of short tandem repeats, both imputed and directly genotyped by whole ...
David Gmelin +10 more
doaj +2 more sources
Genome-wide selection inference at short tandem repeats. [PDF]
PLoS GeneticsShort tandem repeats (STRs) comprising repeated sequences of 1-6 bp are one of the largest sources of genetic variation in humans. STRs are known to contribute to a variety of disorders, including Mendelian diseases, complex traits, and cancer.
Bonnie Huang +6 more
doaj +2 more sources
Short tandem repeats delineate gene bodies across eukaryotes [PDF]
Nature CommunicationsShort tandem repeats (STRs) have emerged as important and hypermutable sites where genetic variation correlates with gene expression in plant and animal systems.
William B. Reinar +4 more
doaj +2 more sources
Evaluation of genetic instability of short tandem repeats in hepatocellular carcinoma [PDF]
Scientific ReportsHepatocellular carcinoma (HCC) ranked as the sixth most common malignancy and the third leading cause of cancer-related mortality with approximately 830, 000 deaths worldwide annually.
Yinghui Song +4 more
doaj +2 more sources
Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis [PDF]
Genome BiologyBackground Short tandem repeat (STR) mutations are major drivers of genetic variation and deeply influence phenotypic diversity and evolution, they are often overlooked despite their significant effects.
Zhi-Qin Zhang +6 more
doaj +2 more sources
DNA polymerase characteristics influence noise levels in sequencing of short tandem repeats [PDF]
BMC GenomicsBackground Polymerase chain reaction (PCR) applications including sequencing rely on thermostable DNA polymerases and their ability to generate accurate amplicons. Polymerization errors may hinder the detection of low-level DNA variants such as mutations
Tova Lindh +4 more
doaj +2 more sources