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 …

Sequencing and characterizing short tandem repeats in the human genome

HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

Challenges in analysis and interpretation of microsatellite data for population genetic studies

AI Putman, I Carbone - Ecology and evolution, 2014 - Wiley Online Library
Advancing technologies have facilitated the ever‐widening application of genetic markers
such as microsatellites into new systems and research questions in biology. In light of the …

Assembly and diploid architecture of an individual human genome via single-molecule technologies

M Pendleton, R Sebra, AWC Pang, A Ummat… - Nature …, 2015 - nature.com
We present the first comprehensive analysis of a diploid human genome that combines
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly …

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 …

Profiling the genome-wide landscape of tandem repeat expansions

N Mousavi, S Shleizer-Burko, R Yanicky… - Nucleic acids …, 2019 - academic.oup.com
Tandem repeat (TR) expansions have been implicated in dozens of genetic diseases,
including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore …

Mining and development of novel SSR markers using next generation sequencing (NGS) data in plants

S Taheri, T Lee Abdullah, MR Yusop, MM Hanafi… - Molecules, 2018 - mdpi.com
Microsatellites, or simple sequence repeats (SSRs), are one of the most informative and
multi-purpose genetic markers exploited in plant functional genomics. However, the …

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 …

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

G Narzisi, JA O'rawe, I Iossifov, H Fang, Y Lee… - Nature …, 2014 - nature.com
We present an open-source algorithm, Scalpel (http://scalpel. sourceforge. net/), which
combines mapping and assembly for sensitive and specific discovery of insertions and …

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 …