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!
Rutgers scientists discover 'Legos of life'
23.01.2018 | Rutgers University
Researchers identify a protein that keeps metastatic breast cancer cells dormant
23.01.2018 | Institute for Research in Biomedicine (IRB Barcelona)
Physicists have developed a technique based on optical microscopy that can be used to create images of atoms on the nanoscale. In particular, the new method allows the imaging of quantum dots in a semiconductor chip. Together with colleagues from the University of Bochum, scientists from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute reported the findings in the journal Nature Photonics.
Microscopes allow us to see structures that are otherwise invisible to the human eye. However, conventional optical microscopes cannot be used to image...
On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.
We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...
What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...
For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.
Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...
At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.
No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...
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