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Native functions of short tandem repeats [PDF]

open access: yeseLife, 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

Short tandem repeats delineate gene bodies across eukaryotes [PDF]

open access: yesNature Communications
Short 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   +4 more sources

Evolutionary Study of Protein Short Tandem Repeats in Protein Families [PDF]

open access: yesBiomolecules, 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   +2 more sources

Genome-wide selection inference at short tandem repeats. [PDF]

open access: yesPLoS Genetics
Short 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

The Genomic landscape of short tandem repeats across multiple ancestries [PDF]

open access: yesPLoS ONE, 2023
Short Tandem Repeats (STRs) have been found to play a role in a myriad of complex traits and genetic diseases. We examined the variability in the lengths of over 850,000 STR loci in 996 children with suspected genetic disorders and 1,178 parents across ...
Prashanth Vijayaraghavan   +7 more
doaj   +3 more sources

The mutational dynamics of short tandem repeats in large, multigenerational families [PDF]

open access: yesGenome Biology, 2022
Background Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome ...
Cody J. Steely   +3 more
doaj   +2 more sources

Evaluation of genetic instability of short tandem repeats in hepatocellular carcinoma [PDF]

open access: yesScientific Reports
Hepatocellular 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

The repertoire of short tandem repeats across the tree of life [PDF]

open access: yesGenome Biology
Background 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   +2 more sources

Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis [PDF]

open access: yesGenome Biology
Background 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

Genotyping short tandem repeats across copy number alterations, aneuploidies, and polyploid organisms [PDF]

open access: yesCommunications Biology
Short tandem repeats (STRs) are a rich source of genetic variation, but are difficult to genotype. While specialized repeat variant callers exist, they typically assume a euploid human genome.
Max A. Verbiest   +3 more
doaj   +3 more sources

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