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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23.08.2017 | American Chemical Society
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23.08.2017 | Empa - Eidgenössische Materialprüfungs- und Forschungsanstalt
Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...
Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...
For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...
An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.
The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...
A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
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23.08.2017 | Life Sciences
23.08.2017 | Life Sciences
23.08.2017 | Physics and Astronomy