Mismatch repair pathway, genome stability and cancer

N Pećina-Šlaus, A Kafka, I Salamon… - Frontiers in molecular …, 2020 - frontiersin.org
The acquisition of genomic instability is one of the key characteristics of the cancer cell, and
microsatellite instability (MSI) is an important segment of this phenomenon. This review aims …

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 …

Patterns of de novo tandem repeat mutations and their role in autism

I Mitra, B Huang, N Mousavi, N Ma, M Lamkin… - Nature, 2021 - nature.com
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …

[KNIHA][B] Genomes 5

TA Brown - 2023 - taylorfrancis.com
Genomes 5 has been completely revised and updated. It is a thoroughly modern textbook
about genomes and how they are investigated. As with previous Genomes editions …

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 …

Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species

M Verbiest, M Maksimov, Y **… - 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 …

lobSTR: a short tandem repeat profiler for personal genomes

M Gymrek, D Golan, S Rosset, Y Erlich - Genome research, 2012 - genome.cshlp.org
Short tandem repeats (STRs) have a wide range of applications, including medical genetics,
forensics, and genetic genealogy. High-throughput sequencing (HTS) has the potential to …

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 …

Rise of the machines–recommendations for ecologists when using next generation sequencing for microsatellite development

MG Gardner, AJ Fitch, T Bertozzi… - Molecular Ecology …, 2011 - Wiley Online Library
Next generation sequencing is revolutionizing molecular ecology by simplifying the
development of molecular genetic markers, including microsatellites. Here, we summarize …

Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements

S Sawaya, A Bagshaw, E Buschiazzo, P Kumar… - PloS one, 2013 - journals.plos.org
Tandem repeats are genomic elements that are prone to changes in repeat number and are
thus often polymorphic. These sequences are found at a high density at the start of human …