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A comprehensive tandem repeat catalog of the human genome [PDF]

open access: yesNature Communications
With the increasing availability of long-read sequencing data, high-quality human genome assemblies, and software for fully characterizing tandem repeats, genome-wide genotyping of tandem repeat loci on a population scale is becoming more feasible.
Readman Chiu   +3 more
doaj   +3 more sources

Expanding the repertoire of human tandem repeat RNA-binding proteins. [PDF]

open access: yesPLoS ONE, 2023
Protein regions consisting of arrays of tandem repeats are known to bind other molecular partners, including nucleic acid molecules. Although the interactions between repeat proteins and DNA are already widely explored, studies characterising tandem ...
Agustín Ormazábal   +6 more
doaj   +2 more sources

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population

open access: yesBMC Medical Genomics, 2021
Background Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict which tandem repeats may cause a disease.
Satomi Mitsuhashi   +2 more
doaj   +1 more source

5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation. [PDF]

open access: yesPLoS ONE, 2014
X-chromosome inactivation (XCI) is the epigenetic transcriptional silencing of an X-chromosome during the early stages of embryonic development in female eutherian mammals.
Filipe Brum Machado   +12 more
doaj   +1 more source

The MUC1 Cytoplasmic Tail and Tandem Repeat Domains Contribute to Mammary Oncogenesis in FVB Mice

open access: yesBreast Cancer: Basic and Clinical Research, 2008
Background Though the importance of the transmembrane mucin MUC1 in mammary oncogenesis has long been recognized, the relative contributions of the cytoplasmic tail and tandem repeat domains are poorly understood. Methods To address this, mouse models of
Christine L. Hattrup   +6 more
doaj   +2 more sources

Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats. [PDF]

open access: yesPLoS Genetics, 2014
Tandem repeats are common in eukaryotic genomes, but due to difficulties in assaying them remain poorly studied. Here, we demonstrate the utility of Nanostring technology as a targeted approach to perform accurate measurement of tandem repeats even at ...
Manisha Brahmachary   +6 more
doaj   +1 more source

Global Repeat Map (GRM) Application: Finding All DNA Tandem Repeat Units

open access: yesAlgorithms, 2022
Tandem repeats (TRs) are important components of eukaryotic genomes; they have both structural and functional roles: (i) they form essential chromosome structures such as centromeres and telomeres; (ii) they modify chromatin structure and affect ...
Matko Glunčić   +3 more
doaj   +1 more source

Structural characteristics of a mitochondrial control region from Myotis bat (Vespertilionidae) mitogenomes based on sequence datasets

open access: yesData in Brief, 2019
The datasets included sequences of a control region from Myotis bat mitogenomes. The control region (1706–2005 bp) of the Myotis mitogenomes was divided into three domains similar to that of other mammals, which included the common conserved blocks (ETAS
Md M. Rahman   +2 more
doaj   +1 more source

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

open access: yesBMC Medical Genomics, 2018
Background The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing.
Alena Zablotskaya   +4 more
doaj   +1 more source

Microsatellite Stability in STR Analysis Aspergillus fumigatus Depends on Number of Repeat Units

open access: yesFrontiers in Cellular and Infection Microbiology, 2019
More than a decade ago a short tandem repeat-based typing method was developed for the fungus Aspergillus fumigatus. This STRAf assay is based on the analysis of nine short tandem repeat markers.
Theun de Groot   +3 more
doaj   +1 more source

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