Resolving the unsolved: comprehensive assessment of tandem repeats at scale

E Dolzhenko, A English, H Dashnow… - bioRxiv, 2023 - biorxiv.org
Tandem repeat (TR) variation is associated with gene expression changes and over 50 rare
monogenic diseases. Recent advances in sequencing have enabled accurate, long reads …

[HTML][HTML] CRISPR–Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis

GW Shin, SM Grimes, HJ Lee, BT Lau, LC Xia… - Nature …, 2017 - nature.com
Microsatellites are multi-allelic and composed of short tandem repeats (STRs) with
individual motifs composed of mononucleotides, dinucleotides or higher including …

100 years of evolving gene–disease complexities and scientific debutants

S Zeeshan, R Xiong, BT Liang… - Briefings in …, 2020 - academic.oup.com
It's been over 100 years since the wordgene'is around and progressively evolving in several
scientific directions. Time-to-time technological advancements have heavily revolutionized …

Revisiting tandem repeats in psychiatric disorders from perspectives of genetics, physiology, and brain evolution

X Xiao, CY Zhang, Z Zhang, Z Hu, M Li, T Li - Molecular Psychiatry, 2022 - nature.com
Genome-wide association studies (GWASs) have revealed substantial genetic components
comprised of single nucleotide polymorphisms (SNPs) in the heritable risk of psychiatric …

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

TB Sonay, T Carvalho, MD Robinson… - Genome …, 2015 - genome.cshlp.org
Tandem repeats (TRs) are stretches of DNA that are highly variable in length and mutate
rapidly. They are thus an important source of genetic variation. This variation is highly …

Mutation protocols share with sexual reproduction the physiological role of producing genetic variation within 'constraints that deconstrain'

DG King - The Journal of Physiology, 2024 - Wiley Online Library
Because the universe of possible DNA sequences is inconceivably vast, organisms have
evolved mechanisms for exploring DNA sequence space while substantially reducing the …

Identification, comparative and phylogenetic analysis of eight Vitis species based on the chloroplast genome revealed their contribution to heat tolerance in …

L Zhang, Y Song, J Li, J Liu, Z Zhang, Y Xu, D Fan… - Scientia …, 2024 - Elsevier
The chloroplast genome plays an important role in exploring the origin and evolution of
grapes. In this study, the chloroplast genomes of eight grape germplasms were analyzed …

A hypermutable region in the DISP2 gene links to natural selection and late-onset neurocognitive disorders in humans

S Khamse, S Alizadeh, HRK Khorshid, A Delbari… - Molecular …, 2024 - Springer
Abstract (CCG) short tandem repeats (STRs) are predominantly enriched in genic regions,
mutation hotspots for C to T truncating substitutions, and involved in various neurological …

Massive variation of short tandem repeats with functional consequences across strains of Arabidopsis thaliana

MO Press, RC McCoy, AN Hall, JM Akey… - Genome …, 2018 - genome.cshlp.org
Short tandem repeat (STR) mutations may comprise more than half of the mutations in
eukaryotic coding DNA, yet STR variation is rarely examined as a contributor to complex …

The emerging role of tandem repeats in complex traits

M Lamkin, M Gymrek - Nature Reviews Genetics, 2024 - nature.com
Tandem repeats are a large source of genetic variation but are challenging to analyse and
have been missing from most genome-wide studies. Results now suggest that systematic …