[HTML][HTML] Short tandem repeats in human exons: a target for disease mutations

BE Madsen, P Villesen, C Wiuf - BMC genomics, 2008 - Springer
Background In recent years it has been demonstrated that structural variations, such as
indels (insertions and deletions), are common throughout the genome, but the implications …

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 …

[HTML][HTML] Characterization of genome-wide STR variation in 6487 human genomes

Y Shi, Y Niu, P Zhang, H Luo, S Liu, S Zhang… - Nature …, 2023 - nature.com
Short tandem repeats (STRs) are abundant and highly mutagenic in the human genome.
Many STR loci have been associated with a range of human genetic disorders. However …

SSRD: simple sequence repeats database of the human genome

S Subramanian, VM Madgula, R George… - Comparative and …, 2003 - Wiley Online Library
Simple sequence repeats are predominantly found in most organisms. They play a major
role in studies of genetic diversity, and are useful as diagnostic markers for many diseases …

[HTML][HTML] Identification of conserved and polymorphic STRs for personal genomes

CM Chen, CP Sio, YL Lu, HT Chang, CH Hu, TW Pai - BMC genomics, 2014 - Springer
Abstract Background Short tandem repeats (STRs) are abundant in human genomes.
Numerous STRs have been shown to be associated with genetic diseases and gene …

[HTML][HTML] Recent advances in the detection of repeat expansions with short-read next-generation sequencing

M Bahlo, MF Bennett, P Degorski, RM Tankard… - …, 2018 - ncbi.nlm.nih.gov
Short tandem repeats (STRs), also known as microsatellites, are commonly defined as
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …

STRs: ancient architectures of the genome beyond the sequence

J Gharesouran, H Hosseinzadeh… - Journal of Molecular …, 2021 - Springer
Short tandem repeats (STRs) are commonly defined as short runs of repetitive nucleotides,
consisting of tandemly repeating 2–6-bp motif units, which are ubiquitously distributed …

STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data

A Halman, E Dolzhenko, A Oshlack - Human Mutation, 2022 - Wiley Online Library
Expansions of short tandem repeats (STRs) have been implicated as the causal variant in
over 50 diseases known to date. There are several tools which can genotype STRs from …

Cis-and trans-modifiers of repeat expansions: blending model systems with human genetics

RJ McGinty, SM Mirkin - Trends in Genetics, 2018 - cell.com
Over 30 hereditary diseases are caused by the expansion of microsatellite repeats. The
length of the expandable repeat is the main hereditary determinant of these disorders. They …

[HTML][HTML] Genome-wide detection of short tandem repeat expansions by long-read sequencing

Q Liu, Y Tong, K Wang - BMC bioinformatics, 2020 - Springer
Background Short tandem repeat (STR), or “microsatellite”, is a tract of DNA in which a
specific motif (typically< 10 base pairs) is repeated multiple times. STRs are abundant …