A new reference standard from the National Institute of Standards and Technology (NIST) may help genetics labs develop improved methods of searching for a mutant needle in a DNA haystack.
A single DNA molecule carrying part of a persons genetic code is a chain of basic chemical units called nucleotides. The number of nucleotides can range from about 16,500 in mitochondrial DNA (mtDNA) to several million in nuclear DNA. A key mutation in a DNA strand may involve only a single nucleotide and yet cause serious health effects.
Accurate analysis of mitochondrial DNA (mtDNA), either for forensic identification or for studying genetic-based diseases, often hinges on the ability to detect such mutations that occur only infrequently, even in the same individual. Unlike the cells nuclear DNA, a persons mtDNA is often heteroplasmic--a mix of a dominant DNA sequence with fewer mutated sequences that differ from the dominant version by one or more nucleotides. There are hundreds or thousands of mitochondria in cells, and the exact percentage of the minority mtDNA in the mix can vary dramatically in an individual from tissue to tissue and even from cell to cell. In general, it can be very difficult to identify variants that make up less than 20 percent of the sample unless you already know they are there.
Michael Baum | EurekAlert!
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University of Maryland researchers contribute to historic detection of gravitational waves and light created by event
On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...
Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.
Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....
Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).
When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...
Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.
How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...
Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.
It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...
17.10.2017 | Event News
10.10.2017 | Event News
10.10.2017 | Event News
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20.10.2017 | Interdisciplinary Research