Results 1 to 10 of about 136,753 (311)

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

Nature 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, Indhu-Shree Rajan-Babu, Jan M. Friedman, Inanc Birol   +3 more
doaj   +4 more sources

TRsv: simultaneous detection of tandem repeat variations, structural variations, and short indels using long read sequencing data [PDF]

Genome Biology
Tandem repeat copy number variations (TR-CNVs), structural variations (SVs), and short indels have been responsible for many diseases and traits, but no tools exist to distinguish and detect these variants.
Shunichi Kosugi, Chikashi Terao
doaj   +2 more sources

Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing [PDF]

Experimental Biology and Medicine
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder presenting progressive weakness of the bulbar and extremity muscles, leading to a wide-ranging clinical phenotype.
Eleonora Sabetta, Karin Rallmann, Jonas Bergquist, Pille Taba, Pille Taba, Abigail L. Pfaff, Abigail L. Pfaff, Bal Hari Poudel, Davide Ferrari, Massimo Locatelli, Sulev Kõks, Sulev Kõks   +11 more
doaj   +2 more sources

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

PLoS 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, Matías Sebastián Carletti, Tadeo Enrique Saldaño, Martín Gonzalez Buitron, Julia Marchetti, Nicolas Palopoli, Alex Bateman   +6 more
doaj   +1 more source

Identification of Proteins Associated with Stably Integrated Maize <i>b1</i> Tandem Repeat Transgene Chromatin. [PDF]

Plants (Basel)
Lynn JS, Koirtyohann KM, Gebreab YB, Edwards J, McGinnis KM.   +4 more
europepmc   +3 more sources

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

BMC 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, Martin C. Frith, Naomichi Matsumoto   +2 more
doaj   +1 more source

Double String Tandem Repeats

Algorithmica, 2022
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Amihood Amir, Ayelet Butman, Gad M. Landau, Shoshana Marcus, Dina Sokol   +4 more
openaire   +3 more sources

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

PLoS 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, Fabricio Brum Machado, Milena Amendro Faria, Viviane Lamim Lovatel, Antonio Francisco Alves da Silva, Claudia Pamela Radic, Carlos Daniel De Brasi, Álvaro Fabricio Lopes Rios, Susana Marina Chuva de Sousa Lopes, Leonardo Serafim da Silveira, Carlos Ramon Ruiz-Miranda, Ester Silveira Ramos, Enrique Medina-Acosta   +12 more
doaj   +1 more source

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

Breast 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, Judy M. Bradley, Kari L. Kotlarczyk, Cathy S. Madsen, Joseph G. Hentz, Ronald J. Marler, Sandra J. Gendler   +6 more
doaj   +2 more sources

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

Algorithms, 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, Ines Vlahović, Leo Mršić, Vladimir Paar   +3 more
doaj   +1 more source