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 …
distinguish them from other genetic variants, including the fact that they are more liable to …
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26
worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 …
worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 …
Patterns of de novo tandem repeat mutations and their role in autism
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …
deficits in communication and social interaction and restrictive or repetitive behaviours …
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 …
However, genome-wide studies of the effects of STRs on gene expression thus far have had …
Genome-wide profiling of heritable and de novo STR variations
T Willems, D Zielinski, J Yuan, A Gordon, M Gymrek… - Nature …, 2017 - nature.com
Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple
genetic diseases, population genetics applications, and forensic casework. However, it has …
genetic diseases, population genetics applications, and forensic casework. However, it has …
Human Y-chromosome variation in the genome-sequencing era
MA Jobling, C Tyler-Smith - Nature Reviews Genetics, 2017 - nature.com
The properties of the human Y chromosome–namely, male specificity, haploidy and escape
from crossing over—make it an unusual component of the genome, and have led to its …
from crossing over—make it an unusual component of the genome, and have led to its …
Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes
Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are
often used in forensics and population genetics and are also the underlying cause of many …
often used in forensics and population genetics and are also the underlying cause of many …
Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
M Verbiest, M Maksimov, Y Jin… - Journal of …, 2023 - academic.oup.com
Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA.
Along with single nucleotide polymorphisms and large structural variations, they are among …
Along with single nucleotide polymorphisms and large structural variations, they are among …
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 …
accurately profiling STRs from high-throughput sequencing data have enabled genome …
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 …
a million short tandem repeats (STRs). While studies of the pathologic consequences of …