Results 11 to 20 of about 1,186 (215)

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

Comparison of the Frequency of Y-short Tandem Repeats Markers between Sadat and Non-Sadat Populations in Isfahan Province of Iran

Advanced Biomedical Research, 2017
Background: Y chromosome is one of the two sex chromosomes and is male specific. Due to limited genetic exchange, the main part of that is passed virtually unchanged from one generation to next generation.
Reihaneh Seyedebrahimi, Ebrahim Esfandiari, Bahman Rashidi, Rasoul Salehi, Ali Gholami Dahghi, Shahriar Dabiri, Majid Kheirollahi   +6 more
doaj   +1 more source

A Brief Review of Short Tandem Repeat Mutation

Genomics, Proteomics & Bioinformatics, 2007
Abstract Short tandem repeats (STRs) are short tandemly repeated DNA sequences that involve a repetitive unit of 1–6 bp. Because of their polymorphisms and high mutation rates, STRs are widely used in biological research. Strand-slippage replication is the predominant mutation mechanism of STRs, and the stepwise mutation model is ...
Hao Fan, Jia-You Chu
openaire   +2 more sources

Quantification of mixed chimerism allows early therapeutic interventions

Revista Brasileira de Hematologia e Hemoterapia, 2014
Hematopoietic stem cell transplantation is the curative option for patients with myelodysplastic syndrome; however, it requires a long post-transplantation follow-up.
Jóice Merzoni, Gisele Menezes Ewald, Alessandra Aparecida Paz, Liane Esteves Daudt, Luiz Fernando Job Jobim   +4 more
doaj   +1 more source

Using short tandem repeat profiling to validate cell lines in biobanks

Кардиоваскулярная терапия и профилактика, 2022
Aim. To approve the COrDIS kit (Gordiz, Russia) for the authenticity of cell lines from the Bioresource Collection of the N.N. Blokhin National Medical Research Center of Oncology by the short tandem repeat (STR) profiling.Material and methods.
E. N. Kosobokova, A. A. Malchenkova, N. A. Kalinina, V. S. Kosorukov   +3 more
doaj   +1 more source

Reuse of Denaturing Polyacrylamide Gels for Short Tandem Repeat Analysis

BioTechniques, 1998
Denaturing polyacrylamide gel electrophoretic analysis of amplified polymorphic short tandem repeat (STR) loci using fluorescent markers is a mainstay of forensic and paternity testing.
Allan Tereba, Katherine A. Micka, James W. Schumm   +2 more
doaj   +1 more source

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

Acta Neuropathologica Communications, 2021
Background Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington’s disease,
Sanjog R. Chintalaphani, Sandy S. Pineda, Ira W. Deveson, Kishore R. Kumar   +3 more
doaj   +1 more source

Forensic identification of missing persons using DNA from surviving relatives and femur bone retrieved from salty environment

Journal of Forensic Science and Medicine, 2020
Human identification using forensic DNA profiling has made enormous advancement over the past two-and-half decades. Forensic DNA profiling provides enormous genetic data from a variety of biological materials and individuals to help solve many important ...
Kofi Adjapong Afrifah, Alexander Badu-Boateng, Samuel Antwi-Akomeah, Eva Emefa Motey, Emmanuel Boampong, Peter Twumasi, Paul Poku Sampene, Augustine Donkor   +7 more
doaj   +1 more source