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Category Archives: Transhuman News

Human genetic variation recent, varies among populations

Posted: November 30, 2012 at 5:44 pm

ScienceDaily (Nov. 28, 2012) Nearly three-quarters of mutations in genes that code for proteins -- the workhorses of the cell -- occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine.

"One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.)

How events affected genome

The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from what would have been seen 5,000 years ago, said Leal and her colleagues in the report that appears online in the journal Nature. The report shows that "recent" events have a potent effect on the human genome.

Eighty-six percent of the genetic variation or mutations that are expected to be harmful arose in European-Americans in the last five thousand years, said the researchers.

The researchers used established bioinformatics techniques to calculate the age of more than a million changes in single base pairs (the A-T, C-G of the genetic code) that are part of the exome or protein-coding portion of the genomes (human genetic blueprint) of 6,515 people of both European-American and African-American decent. The research was an offshoot of the National Heart, Lung and Blood Institute Exome Sequencing Project.

Human population increase

"The recent dramatic increase in human population size, resulting in a deluge of rare functionally important variation, has important implications for understanding and predicting current and future patterns of human disease and evolution," wrote the authors in their report.

Others institutions that took part in this research include the University of Washington, Seattle; University of Michigan, Ann Arbor; the Broad Institute of MIT and Harvard.

Funding for the research came from the GO (Grand Opportunity) Exome Sequencing Project (NHLBI grants RC2 HL-103010 (Heart GO), RC2 HL-102923 (Lung GO) and RC2 HL-102924 (WHISP). The exome sequencing was supported by NHLBI grants RC2HL-102925 (Broad GO) and RC2 HL-102926 (Seattle GO).

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Human genetic variation recent, varies among populations

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Happy Birthday Mommy Gigi – Video

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Happy Birthday Mommy Gigi
Happy happy birthday Mother! Thank you for all the love, care and understanding even when Daddy #39;s DNA is getting the better of me. We love you so so much. We can soon move to a place we can call our own. Stay beautiful and healthy. I love you!From:TheBabelsOutcastViews:1 0ratingsTime:05:53More inPeople Blogs

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Happy Birthday Mommy Gigi - Video

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Two Twins Dancing – Video

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Two Twins Dancing
Do we have a #39;music #39; DNA gene? If you are connected to the music business, register at http://www.musicalexchanges.com - "The fastest-growing music network on the planet!"From:TheMusicalExchangesViews:0 0ratingsTime:00:54More inMusic

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Transcripted Gameplay (PC/1080p HD) – Video

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Transcripted Gameplay (PC/1080p HD)
Transcripted Gameplay (PC/1080p HD) More gameplay videos here: http://www.youtube.com Transcripted is a mixture of two incredibly addictive and vastly popular casual gaming styles: the dual-stick shooter and the match three puzzle game. In Transcripted players take control of the Nano Probe, a microscopic apparatus used to combat disease. With the aid of a skill tree that improves ship equipment, health, shields and the Nano Probe #39;s arsenal of upgradeable weapons, players must successfully navigate through hordes of deadly pathogens to destroy the disease #39;s pseudo-DNA as it twines perilously on its endless path to infection. Along the way players must defeat gigantic boss colonies the pathogen has evolved with the sole purpose of stopping the Nano Probe from completing its mission. Difficulty levels of both puzzle and shooting segments can be adjusted independently to suit every play style, making Transcripted an amazingly replayable experience.From:PalmSmashViews:0 0ratingsTime:05:37More inGaming

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Transcripted Gameplay (PC/1080p HD) - Video

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Cancer Heterogeneity Analysis With Ion AmpliSeq Cancer Panel – Prof Aldo Scarpa, ARC-NET, Verona – Video

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Cancer Heterogeneity Analysis With Ion AmpliSeq Cancer Panel - Prof Aldo Scarpa, ARC-NET, Verona
Learn more at http://www.lifetechnologies.com Evaluation of tumor heterogeneity by NGS, using the Ion PGM and Ion AmpliSeq cancer panel. The team at ARC-NET, Verona use 10ng FFPE DNA samples to profile genomic sequence variations, revealing specific DNA variants that are associated with different tumor morphologies.From:LifeTechnologiesCorpViews:0 0ratingsTime:04:43More inScience Technology

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Cancer Heterogeneity Analysis With Ion AmpliSeq Cancer Panel - Prof Aldo Scarpa, ARC-NET, Verona - Video

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Gene By Gene Launches DNA DTC

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HOUSTON, Nov. 29, 2012 /PRNewswire/ --The world's largest processor of full mitochondria sequences, Gene By Gene, Ltd., today announced the launch of DNA DTC to offer highly reliable and competitively priced genomic testing solutions to institutional customers as well as to the Direct-to-Consumer market.

Genomic investigators at life science companies, contract research organizations, academic institutions and public-sector research facilities now have access to the company's Genomics Research Center, a CLIA registered lab, which has processed more than 5 million discrete DNA tests for more than 700,000 individuals and organizations since it was established 12 years ago.

"Given the explosive demand for accurate, timely, and large-scale next generation sequencing, we're pleased to make our Genomics Research Center available to investigators exploring the cutting edge of research to pioneer and enhance treatment of disease, enhance quality of life, break new ground in genealogical inquiry and otherwise advance the science of genomics," Gene By Gene President Bennett Greenspan said. "The launch of DNA DTC is the perfect complement to our other divisions, through which we make genetic testing advances every day in the fields of ancestry, health and relationship testing."

DNA DTC's Houston research center offers a wide range of Research Use Only (RUO) tests, utilizing next generation sequencing including the entire exome (at 80x coverage) and the whole genome. The company offers several products at various levels of analysis and price-points, from cost effective and powerful tools like the Illumina Human OmniExpress BeadChip for genome-wide association studies (GWAS), to human mitochondrial tests, to the comprehensive results delivered by DNA DTC's Exome and Whole Genome Sequencing products.

"Gene By Gene is a truly unique organization in their ability to drive advancements and discoveries in research, clinical applications, and consumer products. We are very excited to be involved in building such a well rounded offering," said Matt Posard, Senior Vice President and General Manager of Illumina's Translational and Consumer Genomics business.

DNA DTC's automated laboratory and processes allow highly reliable testing with remarkable processing times and the most competitive prices in the industry. For example, DNA DTC offers introductory pricing of $695 for Exome Sequencing 80x, using the Illumina HiSeq platform recognized for its high degree of accuracy in identifying variations in any individual's DNA sequence.

With the launch of DNA DTC, institutional customers may take full advantage of Gene By Gene's proven Genomics Research Center, which has already served the needs of researchers from France's Institut Pasteur, Israel's Rabin Medical Center, University of Utah and the National Geographic Society's Genographic Project. The facility processes more than 200 types of DNA tests for customers, is a leading discoverer of Y-chromosome Single Nucleotide Polymorphisms (SNPs), and is the largest processor of human mitochondria sequences submitted to the National Institute of Health's (NIH) National Center for Biotechnology Information (NCBI) GenBank.

The company employs experienced scientists, including Chief Scientist Doron Behar MD, PhD., whose academic background, combined with his dual degrees in Internal Medicine and Critical Care Medicine, gives him unique expertise in evolutionary genomics, ancestry, phylogenetics and translational genomics. Behar leads a multi-disciplinary team of experts working together to develop robust, competitively-priced genetic testing for consumers and institutional customers worldwide.

Customer Inquiries

Prospective institutional customers interested in more information on DNA DTC's RUO offering may visit http://www.dnadtc.com or contact the DNA DTC customer service team at info@dnadtc.com or 713-868-1438.

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Gene By Gene Launches DNA DTC

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Pathway to bypass DNA lesions in replication process is experimentally shown

Posted: at 5:44 pm

ScienceDaily (Nov. 30, 2012) DNA lesions are really common -- about one million individual molecular lesions per cell per day -- because its long strands usually have one missing base or are damaged. These lesions can stall the DNA replication process, what can lead to the cell death. To avoid it, there are several pathways to bypass lesions in order to continue with the process of DNA replication. One of these processes has been entirely reproduced in vitro using some techniques of manipulation of single-molecules in a study published November 30 in Science, led by the researcher of the University of Barcelona Maria Maosas.

"This pathway was proposed in the seventies and now we have been able to prove it on a bacteriophage through the manipulation of single-molecules that, oppositely to the traditional biochemical techniques that work with a great number of molecules, allows to study how a protein works on a molecule in real time," explains Maosas, professor at the Department of Fundamental Physics of the UB, affiliated with the campus of International excellence, BKC.

To study a single-molecule, we used magnetic tweezers, a technique which consists on tethering a DNA hairpin between a glass surface and a magnetic bead. A magnetic system generates a magnetic field which allows manipulating the beads and generates magnetic forces. This system can be used in order to measure the extension changes of DNA strands through the screening of the magnetic beads. According to Maosas, "proteins' activity over DNA can be inferred from the changes in the extension of the molecule. The changes are due to the proteins' work."

The template switching strategy

In the DNA replication process, the two strands who act as a template to synthesise a complementary strand are separated, and the new complementary strand joins each of the initial strands in order to obtain two identical copies of the original DNA molecule. In this process take part the polymerases, a family of enzymes that carry out all forms of DNA replication. When in any of the two derived strands there is a lesion, especially in the leading strand, the polymerase stops synthetizing the bases, so the replication process is stalled. "To stall this process can entail some problems in cellular growth," explains Maosas. "When the replication mechanism (replisome) is disassembled, the bypass process analysed in this study starts," points out the author, member of the Biomedical Research Networking center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN) and researcher at the University of Paris.

The studied process begins with the action of a helicase protein (UvsW) which promotes the binding of DNA strands, a phenomenon named DNA hybridization. This protein is also able to build an intermediate structure (Holliday junction) taking as a model the not damaged replicated strand and, together with the action of polymerase, drive the system to its departure point, once "jumped" the lesion, and then restart the DNA replication process. "Therefore, the information lost when one strand is damaged can be recovered from the other intact strand which acts as a backup; this process is named "the template switching strategy." In the study, we have also observed the regulation mechanisms of this pathway, as well as the rate of annealing of helicase UvsW, 1500 bases per second, one the largest known," concludes Maosas.

DNA repair is essential in a great number of diseases. A deeper knowledge of these phenomena will enable us to act over some proteins which have similar functions in humans. Maosas is working on this direction; she is carrying out a study on a human protein named HARP in order to know how it works, because it is known that it has a really important role in the genome conservation and its dysfunction is related to some types of cancer.

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Pathway to bypass DNA lesions in replication process is experimentally shown

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Harvard scientists build tiny structures with DNA Legos

Posted: at 5:44 pm

Engineers have found a new and unexpected use for the code of lifeas a commonplace building material that can be used to fashion precise 3D structures, ranging from miniature smiley faces to cubes.

Most people think of DNA as the master blueprint that is carried in every cell, spelling out the essential traits of organisms. DNA is the building block of life only in the metaphorical sense. But scientists at the Wyss Institute for Biologically Inspired Engineering at Harvard University saw in the material an unexploited versatility, if it were to be used as a real brick. They described Thursday in the journal Science an array of molecular Legos that could one day provide a useful scaffold for building tiny electronic circuits and drug-delivery devices.

To show just how much control they had over structures made of DNA, the team of researchers built a demonstration set of 100 figures. Those ranged from practical engineering feats, such as joining together two structures with a narrow connection, to the whimsicalthe alphabet, or a heart.

When Hendrik Dietz, who leads the Laboratory for Biomolecular Nanotechnology at Technische Universitt Mnchen in Germany, received a copy of the paper from a colleague at Harvard a few weeks ago, he was full of enthusiasm for the work. It represents a new level of control over building precisely tailored objects at the tiniest scales, he wrote in an e-mail. But Dietz said he also had an almost instantaneous emotional response.

The 3D thing is so awesome, he wrote to his colleague. I almost got tears in my eyes because of the joy. I love the Lego figures. When looking at this, one cannot help but submit to the power of DNA.

Peng Yin, a core faculty member of the Wyss Institute who led the research, said it was helpful for the researchers to think of the DNA as Lego bricks rather than as molecules. The code of DNA involves four lettersC, G, T, and Awhich abide by precise pairing rules: A matches up with T, and C with G. To build the structures, researchers started with short strands of DNA, each carrying eight-letter fragments that acted like the prongs on a Lego block. Each eight-letter fragment was like a Lego prong that would only fit one other predetermined Lego.

But unlike a kit that keeps kids busy for hours, these DNA structures required little assembly, once the structures had been designed, Yin said.

You just add some water and salt and increase the temperature to 90 degrees and let it cool down gradually over three daysthats it, Yin said. In one test tube, there are billions of copies of these individual objects, but they all look the same.

The work, he said, demonstrates that DNA, essential for life, can have other uses. It builds on earlier research, in which Yins team found it could stack DNA bricks on one another in two dimensions. And earlier this year, Yins colleague at Harvard, George Church, showed that it was possible to turn DNA into a more conventional storage material. He took the text of his 284-page book, Regenesis: How Synthetic Biology Will Reinvent Nature and Ourselves, translated its words into binary codewords became a string of 0s and 1s. Then, they translated that binary into the letters of DNA, with As and Cs corresponding to 0 and Gs and Ts indicating a 1. They then they created 55,000 short strands of DNA that, read together and properly decoded, amounted to a genetic copy of the book.

Church, who is collaborating with Yin, said the new work would be helpful in any application in which precision was important.

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Harvard scientists build tiny structures with DNA Legos

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Applied DNA Sciences Announces Third-Party Service for SigNature(R) DNA Authentication Marking of Electronics

Posted: at 5:44 pm

STONY BROOK, NY--(Marketwire - Nov 29, 2012) - Applied DNA Sciences, Inc. ( OTCBB : APDN ), (Twitter: @APDN), a provider of DNA-based anti-counterfeiting technology and product authentication solutions, announced today the availability of a third-party SigNature DNA-marking service for electronics.

The service will provide a turn-key solution for ramping up SigNature DNA marking at the highest levels of quality and standards compliance.Electronics companies who opt to use the service benefit from a fast-track route to compliance with the requirement to use SigNature DNA marking issued by the Defense Logistics Agency (DLA), as well as for delivery to commercial buyers.

Said Dr. James A. Hayward, CEO and President of Applied DNA Sciences, "We are listening to our customers and prospective customers, who realize that a shorter time to market for this service has great competitive benefits for them.We are aware that, in the military sphere, important deadlines are approaching."

DLA, in a "Frequently Asked Questions for DNA Marking," issued November 8, stated that it is "firmly committed to a robust anti-counterfeiting program."In addition, DLA Vice-Admiral Mark Harnichek has stated that DNA marking is one of "four big things" that DLA is doing currently to mitigate counterfeit risk.

The new APDN service offers secure off-site implementation of SigNature DNA marking for companies who have met the qualification requirements for participation in the program.The third-party DNA marking service packages creation of a unique SigNature DNA mark with a quick-startup marking program at ADNAS facilities or at those of a licensee.SMT Corporation, based in Sandy Hook, CT is prepared to fulfill SigNature DNA marking orders immediately.

The DLA mandate for use of SigNature DNA was announced on August 7 in a clause in Defense Logistics Acquisition Directive (DLAD) 52.211-9074, and was expanded on November 7 with a provision atDLAD 52.211-9008. This mandate specifically requires SigNature DNA marking for procurements of items falling within Federal Supply Class 5962, Electronic Microcircuits.

While the DLA mandate applies only to procurements made by DLA, APDN's third-party marking service is designed to accommodate all government and commercial enterprises that are interested in the legal, health and safety, and brand protection benefits of the authentication platform.The company pointed out that SigNature DNA has been used and tested on a wide variety of products.

This year, new laws and regulations have cast a new national spotlight on anti-counterfeiting technologies like SigNature DNA.A well-known example is in the anti-counterfeiting language in Section 818 of the National Defense Authorization Act for Fiscal Year 2012 (Section 818).A major deadline for Section 818, which imposes strict requirements for control of counterfeits, is due to be reached soon.

About Applied DNA Sciences

APDN is a provider of botanical-DNA based security and authentication solutions that can help protect products, brands and intellectual property of companies, governments and consumers from theft, counterfeiting, fraud and diversion. SigNature DNA and smartDNA, our principal anti-counterfeiting and product authentication solutions that essentially cannot be copied, provide a forensic chain of evidence and can be used to prosecute perpetrators.

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Applied DNA Sciences Announces Third-Party Service for SigNature(R) DNA Authentication Marking of Electronics

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Scientists build with tiny bricks of DNA

Posted: at 5:44 pm

A video from Harvard's Wyss Institute explains how strands of DNA can be assembled into three-dimensional nanostructures like tiny Lego building blocks.

By Alan Boyle

Researchers at Harvard's Wyss Institute have coaxed single strands of DNA to fit together like Lego bricks and form scores of complex three-dimensional shapes, including a teeny-tiny space shuttle. The technique, described in this week's issue of the journal Science, adds a new dimension to molecular construction and should help open the way for nanoscale medical and electronic devices.

"This is a simple, versatile and robust method," the study's senior author, Peng Yin, said in a news release.

The method starts with synthetic strands of DNA that take in just 32 nucleotides, or molecularbits of genetic code. These individual "bricks" are coded in a way that they fit together like Lego pegs and holes to form larger shapes of a specific design. A cube built up from 1,000 such bricks (10 by 10 by 10) measures just 25 nanometers in width. That's thousands of times smaller than the diameter of a single human hair.

The latest research builds upon work that the Wyss researchers detailed in May, which involved piecing together DNA strands to create two-dimensional tiles (including cute smiley faces). This time around, the strands were twisted in such a way that they could be interlocked, Lego-style. As any visitor to Legoland knows, such structures can get incredibly complex in the hands of a skilled builder.

Yin and his colleagues are still learning their building techniques. Fortunately, the bricks could be programmed to build themselves, with the aid of 3-D modeling software. Once the designs were set, the researchers synthesized strands with the right combinations of nucleotides adenosine, thymine, cytosine and guanine so that when they were mixed together in a solution, at least some of the bricks would form the desired design.

To demonstrate the method, 102 different 3-D shapes were created using a 1,000-brick template.

The Wyss researchers reported a wide variation in assembly success rate, or yield: Depending on the design, the yield ranged from 1 percent to 40 percent.That's roughly in the same range as the success rate for another method for molecular assembly, known as DNA origami. The origami method requires more custom work to design the "staples" to hold the DNA structures together, while the Lego-style method can rely more easily on a standard toolbox of DNA bricks.

In the future, DNA origami and DNA brick-building may be used together, said Kurt Gothelf, director of the Center for DNA Nanotechnology at Aarhus University in Denmark. "It is likely that a combination of the two methods will pave the way for making even larger structures in higher yields," Gothelf wrote in a commentary for Science.

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