[HTML][HTML] 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

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 …

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 …

[HTML][HTML] Genetic and chemotherapeutic influences on germline hypermutation

J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek… - Nature, 2022 - nature.com
Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …

[HTML][HTML] Repetitive DNA sequence detection and its role in the human genome

X Liao, W Zhu, J Zhou, H Li, X Xu, B Zhang… - Communications …, 2023 - nature.com
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and
regulating gene expression. In this review, we summarized the definition, arrangement, 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 …

[HTML][HTML] Genomic repeats categorize genes with distinct functions for orchestrated regulation

JY Lu, W Shao, L Chang, Y Yin, T Li, H Zhang, Y Hong… - Cell reports, 2020 - cell.com
Repetitive elements are abundantly distributed in mammalian genomes. Here, we reveal a
striking association between repeat subtypes and gene function. SINE, L1, and low …

[HTML][HTML] Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies

L Choi, JY An - Neuroscience & Biobehavioral Reviews, 2021 - Elsevier
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic
component. Recently developed genomic technologies, including microarray and next …

[HTML][HTML] 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 …

Pedigrees and perpetrators: uses of DNA and genealogy in forensic investigations

SH Katsanis - Annual review of genomics and human genetics, 2020 - annualreviews.org
In the past few years, cases with DNA evidence that could not be solved with direct matches
in DNA databases have benefited from comparing single-nucleotide polymorphism data with …