[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 …
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 …
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
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by
deficits in communication and social interaction and restrictive or repetitive behaviours …
deficits in communication and social interaction and restrictive or repetitive behaviours …
[HTML][HTML] Genetic and chemotherapeutic influences on germline hypermutation
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 …
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
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and
regulating gene expression. In this review, we summarized the definition, arrangement, 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 …
Along with single nucleotide polymorphisms and large structural variations, they are among …
[HTML][HTML] Genomic repeats categorize genes with distinct functions for orchestrated regulation
Repetitive elements are abundantly distributed in mammalian genomes. Here, we reveal a
striking association between repeat subtypes and gene function. SINE, L1, and low …
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 …
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 …
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 …
in DNA databases have benefited from comparing single-nucleotide polymorphism data with …