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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   +5 more sources

A reference haplotype panel for genome-wide imputation of short tandem repeats [PDF]

open access: yesNature Communications, 2018
Short-tandem repeats (STR), similar to single nucleotide polymorphisms (SNP), contribute to complex traits, but their ascertainment by next-generation sequencing is costly. Here, Saini et al.
Shubham Saini   +4 more
doaj   +6 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

Counting short tandem repeats [PDF]

open access: yesNature Methods, 2020
A method using CRISPR–Cas technology, nanopore sequencing and bioinformatics enables quantification of short tandem repeats with high accuracy.
Grant I. Miura
semanticscholar   +3 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

Adaptive protein evolution through length variation of short tandem repeats in Arabidopsis. [PDF]

open access: yesSci Adv, 2023
Intrinsically disordered protein regions are of high importance for biotic and abiotic stress responses in plants. Tracts of identical amino acids accumulate in these regions and can vary in length over generations because of expansions and retractions ...
Reinar WB   +8 more
europepmc   +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

Mutation of human short tandem repeats. [PDF]

open access: yesHuman Molecular Genetics, 1993
A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be ...
J. Weber, Carmen Wong
semanticscholar   +3 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

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