More than one million people have now had their genome sequenced, or its protein-coding regions (the exome). The hope is that this information can be shared and linked to phenotype — specifically, disease — and improve medical care. An obstacle is that only a small fraction of these data are publicly available:
Human genomics: A deep dive into genetic variationAnalysis of protein-coding genetic variation in 60,706 humansProtective gene offers hope for next blockbuster heart drug
In an important step, we report this week the first publication from the Exome Aggregation Consortium (ExAC), which has generated the largest catalogue so far of variation in human protein-coding regions. It aggregates sequence data from some 60,000 people. Most importantly, it puts the information in a publicly accessible database that is already a crucial resource (http://exac.broadinstitute.org).
There are challenges in sharing such data sets — the project scientists deserve credit for making this one open access. Its scale offers insight into rare genetic variation across populations. It identifies more than 7.4 million (mostly new) variants at high confidence, and documents rare mutations that independently emerged, providing the first estimate of the frequency of their recurrence. And it finds 3,230 genes that show nearly no cases of loss of function. More than two-thirds have not been linked to disease, which points to how much we have yet to understand.
The study also raises concern about how genetic variants have been linked to rare disease. The average ExAC participant has some 54 variants previously classified as causal for a rare disorder; many show up at an implausibly high frequency, suggesting that they were incorrectly classified. The authors review evidence for 192 variants reported earlier to cause rare Mendelian disorders and found at a high frequency by ExAC, and uncover support for pathogenicity for only 9. The implications are broad: these variant data already guide diagnoses and treatment (see, E. V. Minikel et al. Sci. Transl. Med. 8, 322ra9; 2016 and R. Walsh et al. Genet. Med. http://dx.doi.org/10.1038/gim.2016.90; 2016).
These findings show that researchers and clinicians must carefully evaluate published results on rare genetic disorders. And it demonstrates the need to filter variants seen in sequence data, using the ExAC data set and other reference tools — a practice widely adopted in genomics.
The ExAC project plans to grow over the next year to include 120,000 exome and 20,000 whole-genome sequences. It relies on the willingness of large research consortia to cooperate, and highlights the huge value of sharing, aggregation and harmonization of genomic data. This is also true for patient variants — there is a need for databases that provide greater confidence in variant interpretation, such as the US National Center for Biotechnology Information’s ClinVar database.
Symantec writes: Cybercriminals are using clickbait, promising a video showing Democratic Party presidential nominee Hillary Clinton exchanging money with an ISIS leader, in order to distribute malicious spam emails. The email's subject announces “Clinton Deal ISIS Leader caught on Video,” however there is no video contained in the email, just malware. Adding to the enticement, the email body also discusses voting, asking recipients to “decide on who to vote [for]” after watching the non-existent clip. Attached to the email is a ZIP archive, containing a Java file. Make the mistake of opening the Java file (in the mistaken belief that you are going to see a controversial video) and you will be infecting your computer with the Adwind backdoor Trojan horse. It's not unusual for criminals to use these kind of disguises to make their malicious emails more tempting to click on, and we've seen attacks like this during previous presidential election campaigns. Expect more of the same, and be on your guard.
Joseph Cox at Motherboard writes: Australian authorities hacked Tor users in the US as part of a child pornography investigation, Motherboard has learned. The contours of this previously-unreported hacking operation have come to light through recently-filed US court documents. The case highlights how law enforcement around the world are increasingly pursuing targets overseas using hacking tools, raising legal questions around agencies’ reach. In one case, Australian authorities remotely hacked a computer in Michigan to obtain the suspect's IP address. While I'm sure that the vast majority of us are keen for child abuse websites to be shut down, and their users brought to justice, we are not all comfortable with intelligence agencies breaking the law themselves to achieve this. Legal processes need to be put in place to not only prevent criminals from hacking into systems they shouldn't and stealing private information, but also to prevent over-zealous law enforcement agents from stepping over the line. Just because something can be done doesn't mean it should be done. Also, we need to stop thinking that state-sponsored hacking is something done by the Russians and Chinese against the Americans and the Brits. Or it's something that the Americans and Brits do against the Russians and Chinese. The true story is that just about everyone is up to it. I would be shocked if any even semi-sophisticated intelligence agency anywhere in the world wasn't using the internet, and methods used by criminal hackers, to spy upon the governments, businesses and citizens of other countries.
If you’ve recently stayed at a hotel, now might be a good time to check your credit card statement. On Aug. 12, HEI Hotels and Resorts reported a data breach that could have exposed the names, card account numbers, expiration dates and verification codes of thousands of customers. The breach affected at least 20 of the 43 Starwood (HOT), Marriott (MAR), Hyatt (H) and Intercontinental Hotels (IHG) operated by HEI.
Among bacteria’s many attributes, perhaps one of its most overlooked yet important ones is its ability to propel itself via flagellum, a unique appendage hanging off its end. This mechanism is a perfect example of a naturally occurring, biological wheel.
Now, for the first time, scientists were able to take a high resolution, 3D look at these wheels at work, using an electron microscope. Their work was published online yesterday in the journal, PNAS.
A flagella is like a tiny tail at the end of the bacteria, allowing it to move through various mediums. It generates torque (that's twisting force) from stators, a ring of structures around the motor part of the organ. These act as the wheel providing the power.
The amount of torque varies depending on the number of stators, which result in varying degrees of power. Different bacteria have different numbers of stators. For example, as New Scientist points out, the motor of Campylobacter has enough force to drive itself through your intestines, resulting in a bad case of food poisoning.
At the same time, another bacteria that the scientists looked at, which is closely related to Vibrio cholerae (the bacteria that produce cholera), have a motor that only has a moderate degree of power.
This variety, as well as the fact that flagellum has evolved independently multiple times, adds evidence to the fact that it evolved gradually via natural selection, rather than intelligent design. To capture these images, a team of researchers, headed by Morgan Beeby at Imperial College London, used a technique called electron cryotomography. That's where you first freeze the bacteria, then use an electron microscope to capture images of it from various angles, finally stitching the resulting images together into one 3D composite.
Aside from the beautiful novelty of these images, researchers could study them to develop better motors for nano-robots, or to design better antibiotics that target the flagellum specific to a certain bacteria.
Blue supergiant stars are amongst the largest and brightest stars in the world. They are characterized by high temperatures ranging from 20,000 - 50,000 kelvin (35,540.3 - 89,540.3 °F). These bright and hot stars are roughly the size of 20 solar masses. However, their size can vary a lot. A blue supergiant star can be as big as 1,000 solar masses.
Here are some interesting facts about blue supergiant stars:
Blue supergiants are highly luminous stars formed as a result of stellar evolution. The process of stellar evolution continues for millions of years. The lifespan of a blue supergiant star can be up to 10 million years.Blue supergiant stars are known for the fast stellar winds which blow on their surfaces. However, these winds, although fast, occur sparsely.These stars have short lifespans in comparison to most stars; which is why they are found in cosmic structures such as spiral galaxies and open clusters. These structures are younger in comparison to other cosmic structures.Blue supergiant stars are of rare occurrence in comparison to other kinds of stars. However, the luminosity of these stars makes them easily visible.
Stars that rotate at a fast pace are known to contain high proportions of helium. These stars also exhibit a mixture of different kinds of elements.
Blue supergiant stars have heavy elements in their spectra. The quantities of heavy elements vary with the age of the star. Another factor which determines the quantity of heavy elements is the efficiency with which nucleosynthesis products are convected from the core of a star to its surface.
The process of their evolution is a bit complicated to understand. Even after years of research, the process is not completely understood, till date.
Recently, a blue supergiant star was discovered by astronomers Dr. Youichi Ohyama (Institute of Astronomy and Astrophysics, Academia Sinica or ASIAA, Taiwan) and Dr. Ananda Hota (UM-DAE Center for Excellence in the Basic Sciences or CBS, India). This star emerged 55 million years ago.
Scientists at the US Department of Energy’s SLAC National Accelerator Laboratory and Stanford University have developed a sun-activated device that kills 99.999 percent of bacteria in water, within just 20 minutes.
@th3j35t3r writes on his blog: Simply put. If Jim is blocked by John, Jim can no longer even utter Johns handle/twittername in a tweet. If he attempts to the tweet simply doesn’t process or gets sinkholed. Period. The end. Forever, or until John unblocks him. This approach would not infringe on Jim’s ‘freedom of speech’, he can still say whatever he likes, but he can’t include John. This approach would be self-policing essentially allowing users to decide if they are being abused or harassed and allowing them to take immediate actions without relying on Twitter to minimize the problem effectively. This approach would not be an overhead on Twitters current infrastructure and would require NOTHING by way of extra storage capacity. Trolls are the ugly side of Twitter, but @th3j35t3r's proposal seems very elegant to me. So how about it Twitter? Find out more, and check out his amusing flowchart, by reading @th3j35t3r's blog post.
When placed in an acoustic field, small objects experience a net force that can be used to levitate the objects in air. In a new study, researchers have experimentally demonstrated the acoustic levitation of a 50-mm (2-inch) solid polystyrene sphere using ultrasound—acoustic waves that are above the frequency of human hearing.
The demonstration is one of the first times that an object larger than the wavelength of the acoustic wave has been acoustically levitated. Previously, this has been achieved only for a few specific cases, such as wire-like and planar objects. In the new study, the levitated sphere is 3.6 times larger than the 14-mm acoustic wavelength used here.
The researchers, Marco Andrade and Julio Adamowski at the University of São Paulo in Brazil, along with Anne Bernassau at Heriot-Watt University in Edinburgh, UK, have published a paper on the acoustic levitation demonstration in a recent issue of Applied Physics Letters.
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