Related Experiment Video
Updated: Feb 6, 2026
08:48
Stretching Short Sequences of DNA with Constant Force Axial Optical Tweezers
Published on: October 13, 2011
13.5K
STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Harriet Dashnow1,2, Monkol Lek3,4, Belinda Phipson1
1Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
Genome Biology
|August 22, 2018
Summary
STRetch is a new genome-wide method to detect short tandem repeat (STR) expansions, a common cause of Mendelian diseases. This open-source software overcomes limitations of existing tools, enabling detection of pathogenic expansions across the entire genome.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Short tandem repeat (STR) expansions are a significant cause of numerous Mendelian diseases.
- Current short-read sequencing analysis tools are limited in detecting the full spectrum of pathogenic STR expansions.
- A gap exists in comprehensive, genome-wide detection of STR variations.
Purpose of the Study:
- To introduce STRetch, a novel genome-wide method for identifying short tandem repeat (STR) expansions.
- To provide an open-source software solution for detecting STR expansions across all human genome loci.
- To demonstrate the capability of STRetch in identifying both known and novel pathogenic STR expansions.
Main Methods:
- Development of STRetch, a new computational method for STR expansion detection.
- Application of STRetch to short-read whole-genome sequencing data.
- Validation of STRetch using known pathogenic STR loci and exploration of novel loci.
Main Results:
- STRetch successfully identifies short tandem repeat (STR) expansions genome-wide.
- The method is effective in detecting pathogenic expansions at known disease-associated loci.
- STRetch also facilitates the discovery of previously unidentified STR expansion sites.
Conclusions:
- STRetch offers a comprehensive solution for detecting short tandem repeat (STR) expansions across the human genome.
- This tool addresses the limitations of existing methods, improving the detection of disease-causing STR variations.
- STRetch is an open-source resource, promoting wider accessibility and research in STR-related genetic disorders.
More Related Videos
09:39DNA Fingerprinting of Mycobacterium leprae Strains Using Variable Number Tandem Repeat VNTR - Fragment Length Analysis FLA
Published on: July 15, 2011
27.8K
10:33Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis
Published on: June 17, 2019
11.3K
Related Concept Videos
01:24IR Frequency Region: X–H Stretching
1.5K
In IR spectroscopy, signals produced by the X−H bonds (such as C−H, O−H, or N−H) can be observed in the frequency range of 2700–4000 cm–1. The C−H stretching vibration forms sharp bands in the region 2850–3000 cm–1. The presence of the O−H stretching vibration leads to the forming of an absorption band in the frequency range 3650–3200 cm−1. At the same time, N−H stretching can be confirmed by absorption bands in...
1.5K
01:21Tandem Mass Spectrometry
2.5K
Tandem mass spectrometry is a technique that uses multiple mass analyzers in series to obtain a higher selectivity and reduce chemical noise during analyte detection. Instruments with multiple analyzers separated by an interaction cell enable secondary fragmentation and selected study of the fragment ions.Secondary fragmentations occur in the interaction cell and can be induced by various factors. Fragmentation induced by collision with inert gases, such as N2, Ar, He, etc., is called...
2.5K
01:24Heat and Free Expansion
2.9K
The work done by a thermodynamic system depends not only on the initial and final states but also on the intermediate states—that is, on the path. Like work, when heat is added to a thermodynamic system, it undergoes a change of state, and the state attained depends on the path from the initial state to the final state. Consider an ideal gas cylinder fitted with a piston. When the cylinder is heated at a constant temperature, the gas molecules absorb energy and expand slowly in a...
2.9K
02:12Short-distance Transport of Resources
17.7K
Short-distance transport refers to transport that occurs over a distance of just 2-3 cells, crossing the plasma membrane in the process. Small uncharged molecules, such as oxygen, carbon dioxide, and water, can diffuse across the plasma membrane on their own. In contrast, ions and larger molecules require the assistance of transport proteins due to their charge or size. Transport across membranes also occurs within individual cells, playing a variety of essential roles for the plant as a whole.
17.7K
01:22Thermal Expansion
5.7K
The expansion of alcohol in a thermometer is one of many commonly encountered examples of thermal expansion, which is the change in size or volume of a given system as its temperature changes. The most visible example is the expansion of hot air. When air is heated, it expands and becomes less dense than the surrounding air, which then exerts an upward force on the hot air to, for example, make steam and smoke rise, and hot air balloons float. The same behavior happens in all liquids and gases,...
5.7K
01:22IR Frequency Region: Alkyne and Nitrile Stretching
1.5K
Both alkyne (C≡C) and nitrile (C≡N) functional groups contain triple bonds and show stretching absorptions around the wavenumber range of 2100 to 2300 cm−1 in the diagnostic region of the IR spectra.
Comparing the stretching vibrational frequency of C≡C triple bonds with that of double and single bonds, it is evident that C≡C triple bonds exhibit a higher stretching frequency than C=C double and C–C single bonds. Similarly, the C≡N triple bond...
Comparing the stretching vibrational frequency of C≡C triple bonds with that of double and single bonds, it is evident that C≡C triple bonds exhibit a higher stretching frequency than C=C double and C–C single bonds. Similarly, the C≡N triple bond...
1.5K