Results 11 to 20 of about 90,397 (258)

Native functions of short tandem repeats

eLife, 2023
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 repeat expansions that cause syndromic human diseases are extensive, the potential native functions of STRs are often ignored.
Shannon E Wright, Peter K Todd
openaire   +3 more sources

Counting short tandem repeats [PDF]

Nature Methods, 2020
A method using CRISPR–Cas technology, nanopore sequencing and bioinformatics enables quantification of short tandem repeats with high accuracy.
openaire   +2 more sources

Mutation of human short tandem repeats [PDF]

Human Molecular Genetics, 1993
A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be ...
J L, Weber, C, Wong
openaire   +2 more sources

DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing

Genome Biology, 2022
Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we developed DeepRepeat which converts ionic current signals into red-green-blue ...
Li Fang, Qian Liu, Alex Mas Monteys, Pedro Gonzalez-Alegre, Beverly L. Davidson, Kai Wang   +5 more
doaj   +1 more source

Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor [PDF]

Brain Communications
Jifeng Guo, Beisha Tang, He Runcheng
exaly   +2 more sources

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

Data 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, Kwang B. Yoon, Yung C. Park   +2 more
doaj   +1 more source

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

Frontiers 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, Jacques F. Meis, Jacques F. Meis, Jacques F. Meis   +3 more
doaj   +1 more source

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Genome Biology, 2018
Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority ...
Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S. Clayton, Nigel G. Laing, Daniel G. MacArthur, Alicia Oshlack   +11 more
doaj   +1 more source

Genome-wide detection of short tandem repeat expansions by long-read sequencing

BMC Bioinformatics, 2020
Background Short tandem repeat (STR), or “microsatellite”, is a tract of DNA in which a specific motif (typically 
Qian Liu, Yao Tong, Kai Wang
doaj   +1 more source

Agarose-Based System for Separation of Short Tandem Repeat Loci

BioTechniques, 1997
Short tandem repeats (STRs) are traditionally analyzed on large polyacrylamide electrophoresis gels. We demonstrate in this study that a small (10-cm-long, 1-mm-thick) agarose gel is sufficient for analysis of multiplexed samples for several commonly ...
Hugh W. White, Noriko Kusukawa
doaj   +1 more source