From about 300 AD to 700 AD, Europe was on the move, founding new civilizations and felling old ones.

Historians have long relied on written and material artifacts to explain Europe's so-called Migration Period, but it turns out that the story is also written in Europeans' genes.

In a pair of new studies, scientists looked into the genomes of those Europeans of antiquity to gain a better understanding of their influence on the islands of Great Britain and Ireland.

 One team looked at samples from the time when the Roman Empire's northern reaches stretched as far as Britain, while the other looked at the next big influence: Germanic tribes migrating from mainland Europe after the Fall of Rome. Both studies are the subject of papers published Tuesday in the journal Nature Communication.

Although the Roman Empire incorporated peoples from far and wide, this new research suggests that Roman genetics were not significantly mixed into the British population. But when the Anglo-Saxon migrations began around 400 AD, these later immigrants mixed more with the resident populations.

"Together they tell a story of about 1,000 years of British history," Stephan Schiffels, lead author of the paper examining Anglo-Saxon migration tells The Christian Science Monitor in an interview.

Roman rule left little genetic trace

At its peak, the Roman Empire stretched from Eastern Europe into the Middle East and from Britain down into the Sahara. Such a vast empire would have made it easier for people to move across long distances, and such migrations would likely yield genetically mixed populations across the empire. Or so researchers thought. 

But in Britain, it seems that outsiders didn't intermingle or settle down much, according to the new research. 

"Despite the fact that the Romans were a very cosmopolitan world, with lots of people moving around," Matthew Collins, co-author of the Roman-era study, tells the Monitor in an interview, "Most of the people that got killed and were buried in the cemetery that we've analyzed have what appears to be a local signal."

Dr. Collins was part of an interdisciplinary team examining remains found in a Roman-era cemetery in York, as well as some earlier and later ones for context. 

Unearthed in 2004 and 2005, the Roman-era skeletons were first thought to be soldiers hailing from afar. All were young men and many had been decapitated, with their heads buried alongside their bodies. 

Their unusual burial led to a lot of speculation, Collins says. Previously scientists have asserted that these were Roman soldiers from other reaches of the empire, but this new study identifies them as all of local, Celtic genetics. Only one of the specimens in this study was not from Britain and ancient DNA analysis identified him as from the Middle East.

Perhaps these men were recruited by the Romans, and participated in skirmishes as gladiators. Or maybe they were the victims of a violent encounter. Collins says it'll take a suite of artifacts, literature, and specimens like these to better explain the young men's demise.

What is clear in this study is that the Romans didn't leave much of a genetic mark on the British population. Through the Roman empire, Collins says, "There was a great deal of continuity with the Iron Age community."

"The idea is that the Roman world was a world of mobility but actually in Britain, it's the Anglo-Saxons that are making the big difference. They're the people coming in.

Anglo-Saxons intermingled

The influence of the Anglo-Saxon migrations has been debated among the scientific community, Dr. Schiffels says. For some, it was a question of whether it was simply ideas and culture being transmitted or if actual populations of people migrated to Britain from mainland Europe.

"We have for the first time now direct evidence," Schiffels says. 

By comparing ancient DNA samples with modern samples from both Britain and parts of mainland Europe, "we estimate that on average the contemporary East English population derives 38% of its ancestry from Anglo-Saxon migrations," the researchers write in their paper.

Schiffels says this might look different in other parts of Britain that saw less of the migration, or the migration of different Germanic tribes.

Some researchers had previously thought that the Anglo-Saxons "came in and created this elite structure which didn't interact with the indigenous population," explains Schiffels. But when the team sampled individuals from what was thought to be a purely Anglo-Saxon graveyard, they found that some of the skeletons were actually more Celtic. One was even a mixture of the two genetic backgrounds.

A migration story

Taken together, the two studies tell a tale of population migrations and their influence in Britain. 

Michael Weale, a statistical and population geneticist at King's College London who was not involved in the study, tells the Monitor in an email that there has been an "on-going debate between historians, geneticists and others about the extent to which historical changes in culture correspond to historical migration events (and if so, how big these migration events might be)."

"To take a modern counter-example, there's a McDonalds in almost every capital in the world, but this doesn't mean there's been a mass migration of Americans, so this is an example of how cultures can change without migration," he explains.

Genetic research is a good way to answer questions about these migrations because DNA holds clues into a person's ancestry, Dr. Weale says. "Every one of us is an amalgam of the DNA of all our ancestors (a number which increases exponentially going back in time), so a single genome can in fact give us an average picture about a large group of people (i.e. about that person's ancestors)," he explains.

So even though these studies look at just a handful of ancient individuals' genomes, Weale says, "It actually gives us a window into population-scale events and histories."

By combining modern and ancient DNA analysis, these two new studies help focus in on the impact of these historical migrations, Weale says. 

"We can now say for sure that the Romans did not leave much of a trace and did not contribute much to the British gene pool," Schiffels says. "But the Anglo-Saxons did greatly so."

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NOW WATCH: Watch science writer Carl Zimmer explain CRISPR in 90 seconds

Britain just gave a team of scientists the all-clear to proceed with research that involves genetically modifying human embryos, a controversial move that's likely to set off an ethical debate, Reuters reports.

The Human Fertilization and Embryology Authority approved the research. Kathy Niakan, a stem cell scientist at the Francis Crick Institute, and her colleagues plan to use the technique to study the genes involved in how embryos develop, not as a treatment for genetic diseases.

But some worry the work could lead to "designer" babies whose DNA has been carefully chosen to have desirable traits.

"This is the first step on a path that scientists have carefully mapped out towards the legalization of [genetically modified] babies," David King, of anti-gene manipulation group Human Genetics Alert, said at a meeting last month, AP reports.

A promising but controversial technique

The technique in question, known as CRISPR/Cas9, allows scientists to easily and accurately "cut and paste" DNA in living cells, to get rid of faulty genes and add desirable ones. It was first discovered in bacteria, but in the past few years, the technique has been adapted for use in many different organisms.

Scientists say the technique holds promise for curing diseases like muscular dystrophy and sickle cell anemia, which are controlled by simple genetic defects. But it could also be used to tackle more complex diseases, such as AIDS or cancer.

Niakan and her colleagues said they do not intend to use the modified embryos to treat diseases or problems in a real pregnancy — but rather to study how healthy embryos develop, which could ultimately lead to better fertility treatments.

The first gene they plan to modify is the Oct4 gene, which may be critical for the earliest stages of human fetal development, Niakan said at a press briefing in London last month, according to Reuters.

Hank Greely, a law and bioethics professor at Stanford University, applauded the decision to move forward with the research.

"This is important research that can only be done with human embryos," Greely said in a statement released by the Genetic Expert News Service. "If you are morally opposed to any destruction of human embryos for research purposes, you should oppose this research. Otherwise, you should support it."

Not the first time

This won't be the first time CRISPR has been used to edit human embryos. Last April, scientists in China reported they had used the technique to correct a genetic blood disorder called beta thalessemia. Those embryos were nonviable, meaning they could not survive until birth, but it was still seen as controversial.

Meanwhile, other gene editing techniques are also being developed. In November, scientists used a method known as TALENs to treat a young girl's leukemia by modifying her immune cells to help them fight off the cancer.

And therapies using CRISPR may not be far off. The gene-editing startup Editas Medicine plans to use the technique in humans as early as 2017, to treat a rare form of blindness.

In December, scientists held a meeting in Washington, DC, to discuss the merits and perils of human gene editing. They decided to allow the work to go ahead, but with important caveats in place.

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Wazir Chand is explaining life 4,000 years ago.

He points to the rocky mounds looming over a huddle of brick houses, a herd of black buffalo and a few stunted trees.

The rising sun burns off a chill mist over the north-west Indian plains.

A low rise was a fortification, Chand says, and a darker patch of red earth hides the site of an altar. Nimbly stepping around piles of buffalo dung, he points to a slight depression. This, apparently, was a pit that may have been a reservoir.

To the casual onlooker, Rakhigarhi is unimpressive. Yet the rubbish-strewn mounds and fields around and under this Indian village are set to deliver the answer to one of the deepest secrets of ancient times.

Rakhigarhi is a key site in the Indus Valley civilisation, which ruled a more than 1m sq km swath of the Asian subcontinent during the bronze age and was as advanced and powerful as its better known contemporary counterparts in Egypt and Mesopotamia.

Archaeologists have learned much about the civilisation since it was discovered along the Indus river in present day Pakistan about a century ago. Excavations have since uncovered huge carefully designed cities with massive grain stores, metal workshops, public baths, dockyards and household plumbing, as well as stunning distinctive seals. But many perplexing questions remain unanswered.

One has stood out: who exactly were the people of the Indus civilisation? A response may come within weeks.

“Our research will most definitely provide an answer. This will be a major breakthrough. I am very excited,” said Vasant Shinde, an Indian archaeologist leading current excavations at Rakhigarhi, which was discovered in 1965.

Shinde’s conclusions will be published in the new year. They are based on DNA sequences derived from four skeletons – of two men, a woman and a child – excavated eight months ago and checked against DNA data from tens of thousands of people from all across the subcontinent, central Asia and Iran.

“The DNA is likely to be incredibly interesting and it has the potential to address all sorts of challenging questions about the population history of the people of the Indus civilisation,” said Dr Cameron Petrie, an expert in south Asian and Iranian archaeology at the University of Cambridge.

The origins of the people of the Indus Valley civilisation has prompted a long-running argument that has lasted for more than five decades.

Some scholars have suggested that they were originally migrants from upland plateaux to the west. Others have maintained the civilisation was made up of indigenous local groups, while some have said it was a mixture of both, and part of a network of different communities in the region. Experts have also debated whether the civilisation succumbed to a traumatic invasion by so-called “Aryans” whose chariots they were unable to resist, or in fact peaceably assimilated a series of waves of migration over many decades or centuries.

The new data will provide definitive answers, at least for the population of Rakhigarhi.

“There is already evidence of intermarriage and mixing through trade and so forth for a long time and the DNA will tell us for sure,” Shinde said.

The conclusions from the new research on the skeletal DNA sample – though focused on the bronze age – are likely to be controversial in a region riven by religious, ethnic and nationalist tensions.

Hostile neighbours India and Pakistan have fought three wars since winning their independence from the British in 1947, and have long squabbled over the true centre of the Indus civilisation, which straddles the border between the countries.

Shinde said Rakhigarhi was a bigger city than either Mohenjo-daro or Harrapa, two sites in Pakistan previously considered the centre of the Indus civilisation.

Some in India will also be keen to claim any new research supports their belief that the Rig Veda, an ancient text sacred to Hindus compiled shortly after the demise of the Indus Valley civilisation, is reliable as an historical record.

The question of links between today’s inhabitants of the area and those who lived, farmed, and died here millennia ago has also prompted fierce argument.

There are other mysteries too. The Indus Valley civilisation flourished for three thousand years before disappearing suddenly around 1500 BC. Theories range from the drying up of local rivers to an epidemic. Recently, research has focused on climate change undermining the irrigation-based agriculture on which an advanced urban society was ultimately dependent.

Soil samples around the skeletons from which samples were sent for DNA analysis have also been despatched. Traces of parasites may tell archaeologists what the people of the Indus Valley civilisation ate. Three-dimensional modelling technology will also allow a reconstruction of the physical appearance of the dead.

“For the first time we will see the face of these people,” Shinde said.

In Rakhigarhi village, there are mixed emotions about the forthcoming revelations about the site.

Chand, the self-appointed guide and amateur expert, hopes the local government will finally fulfil longstanding promises to build a museum, an auditorium and hotel for tourists there.

“This is a neglected site and now that will change. This place should be as popular as the Taj Mahal. There should be hundreds, thousands of visitors coming,” Chand told the Guardian.

A brief glance at the rubbish strewn middens which the mounds of the ancient city have become, indicates the work to be done before Rakhigarhi becomes a major attraction. The inhabitants of today’s Rakhigarhi lack many of the facilities enjoyed by those who lived there in the bronze age. Raj Bhi Malik, the village head, sees an opportunity to develop more than the site’s ancient heritage.

“We want a museum and all that certainly … but also clean drinking water, proper sanitation, an animal hospital, a clinic too,” Malik said.

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Scientists have sequenced the entire human genome, and today, you can get your own DNA sequenced for about $200 just by swabbing your cheek with a Q-tip.

But the information we can get from that sequence isn't as illuminating as you might think.

Anne Wojcicki, cofounder and CEO of the genetics company 23andMe, sat down with astrophysicist and StarTalk Radio host Neil deGrasse Tyson to talk about how the human genome could revolutionize healthcare and biotechnology for our Innovators video series.

People's biggest misconception about their genes, Wojcicki said, is that we have a lot of information about them and what they all do.

"We're just scratching the surface of our understanding," she told Tyson. "The job I feel like I have to my consumers is conveying the fact that we really don't know a lot yet."

Geneticists know a lot about certain genes, Wojcicki continued, citing how mutations in the CFTR gene can lead to cystic fibrosis, and how BRCA mutations can lead to breast and ovarian cancers.

Angelina Jolie made the BRCA mutations famous, since she found out she had one — plus a strong family history of cancer — and decided to get a double mastectomy, then have her ovaries and fallopian tubes removed, in order to decrease her cancer risk.

Only about 1% of women carry a BRCA mutation in the general population, though, so the finding is not actually relevant to most women. (It is one of the mutations you can find if you send 23andMe your DNA to test.)

Many other genes, however, still have many, many more secrets to unlock.

Wojcicki said it could be many years before we turn our raw knowledge about the human genome into treatments for diseases that afflict us.

"It has been decades since we discovered things like the cystic fibrosis mutation and there’s now one drug out there today that's doing a good job treating it," she told Tyson. "But just because you know the gene and potentially how that manifests into a disease doesn't mean that we're actually going to treat it well or we're going to successfully have a therapy for it."

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NOW WATCH: Neil deGrasse Tyson and genetics guru Anne Wojcicki on a future without disease

It's ethical to test a provocative new fertility technique that would prevent mothers from passing on rare but devastating diseases by creating embryos from the DNA of three people — dad, mom and an egg donor — advisers to the government said Wednesday.

But don't expect studies to begin anytime soon. It's not clear that such research can overcome political hurdles.

At issue is a kind of DNA that children can inherit only from their mother: genes that are inside the mitochondria, the energy factories in cells.

Britain last year became the first country to approve creation of embryos that swap a mother's defective mitochondrial DNA with healthy genetic material from a donor egg.

The Food and Drug Administration has been considering whether to allow that replacement technique to be tested in the U.S. But it's controversial, in part because such alterations could be passed to future generations.

In a report requested by the FDA, the Institute of Medicine said Wednesday that it is ethical to do such research if initial experiments follow certain strict safety steps.

They must target women at high risk of passing on a severe disease, and in the first attempts at pregnancy researchers should implant only male embryos. That's because when they grow up, those men couldn't pass on mitochondrial alterations to their own children.

Such research won't happen this year. While the FDA said it would be "carefully reviewing the report and recommendations," it noted that when Congress passed the agency's 2016 budget, it prohibited using any of the money to review applications involving inheritable genetic modification of embryos.

Jeffrey Kahn, a bioethicist at Johns Hopkins University who led the Institute of Medicine panel, said, "It is ethically acceptable to go forward, but go slowly and with great caution."

"Mitochondrial DNA disease can be extremely devastating, and for the women who are at risk of passing it on to their children, they have no other option by which to pursue having a child that's genetically related to them," he said.

The genes that give us our hair and eye color, our height and other family traits — and some common diseases such as cancer — come from DNA in the nucleus of cells, the kind we inherit from both mom and dad.

But only mothers pass on mitochondrial DNA, to both daughters and sons. It encodes a mere 37 genes, but defects can leave cells without enough energy and can lead to blindness, seizures, muscle degeneration, developmental disorders, even death.

Severity varies widely, and researchers estimate 1 in 5,000 children may inherit some degree of mitochondrial disease.

"It's unlikely we'll find any cure once the child is born already with these mutations," said Dr. Shoukhrat Mitalipov of Oregon Health & Sciences University, who produced five healthy monkeys using the technique and approached FDA about starting human studies. "The best way is to prevent it."

Amy Hall of Boulder, Colorado, didn't know she carried such a mutation when her now 4-year-old daughter Nina was born. As a toddler, Nina began losing the ability to talk, eat, even sit up unassisted, and eventually was diagnosed with a deadly mitochondrial condition called Leigh's disease.

"Part of you dies when you figure out your child is dying, and then you can't continue your family," Hall said. "If there's technology available, which now there is, we should be able to utilize it."

It's a twist on regular in vitro fertilization: Remove the nucleus from a donor egg with healthy mitochondria. Take the nucleus from a prospective mother's egg and stick it in the prepared donor egg. After fertilization, the resulting embryo has nucleus DNA from mom and dad but mitochondrial DNA from the egg donor.

Critics have argued that the first such births would have to be tracked for decades to be sure they're really healthy, and that families could try adoption or standard IVF with a donated egg instead. And they say it crosses a fundamental scientific boundary by altering what's called the germline — eggs, sperm or embryos — in a way that could affect future generations.

"It is reckless to proceed with this form of germline modification," said Marcy Darnovsky of the Center for Genetics and Society, an advocacy group.

But the IOM panel argued that restricting initial pregnancies to sons takes away that concern. "This ensures that if there are adverse events, they will not be reverberating down the generations," said bioethicist R. Alta Charo of the University of Wisconsin at Madison.

"It's safer to do that," agreed Dr. Michio Hirano, a neurologist at Columbia University Medical Center who has patients ask about the technique. "The problem is, we're kicking the can down the street a little bit," as far as learning whether daughters, too, would benefit.

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NOW WATCH: Turns out early risers and night owls have different DNA

Jeff Huber spent over a decade  helping Google launch some of its biggest projects – from its ad platform to Google Maps.

This week, he left the company to take on a more personal challenge: developing test for cancer at the earliest possible stage.

Huber was just named CEO of a startup called Grail, which was created last month by gene-sequencing giant Illumina and a group of Silicon Valley investors including Jeff Bezos and Bill Gates.

Grail also now has the backing of Google Ventures, it said when announcing Huber's appointment on Wednesday.

Huber spoke with Business Insider about his reasons for joining Grail, the company's plans to conduct the biggest ever clinical trial, his most recent stint at Google X, the company's research unit, and his personal experience with the disease. 

From ads to biotech

Huber started his tenure at Google working to build its ad platform. From there, he went on to work on everything from Google Apps to Google Maps. After he hit the 10-year mark, he started to think about what he wanted to do next and realized that working at that intersection of biology and technology was going to be his next step.

"As I thought about what I wanted to do next at Google, it seemed to me like biology and science was having a pretty fundamental shift," he said. 

Huber was most recently a senior vice president at Google X, where he spent time bringing big data and analytics to biology. He also served on Illumina's board for the last two years, where he felt the ethical imperative of what the company's been doing with its "ultra-deep sequencing" research.

DNA sequencing is a process in which researchers can break down DNA into its most basic building blocks, which they can then analyze to inform everything from where your ancestors came from to what diseases you might be predisposed to. 

Huber's motives are also deeply personal. His wife died last year of late-stage cancer. A screening test that could diagnose her disease early on might have changed the course of her life.  

"Every day we don’t have a test available, lives are being lost," he said. So, Grail's plan is to move with "tech-company speed," balanced by science and quality results.

Moving at tech-company speed as a healthcare company has to be taken with some caution: If the excitement around a certain idea moves faster than the science, it could have some serious — possibly even deadly — consequences. But, if Grail's able to pull off the scientific validation at the same time, it could be astonishing to see. 

Huber's first task is going to be to build a team that can take on the seemingly impossible task of developing a universal cancer-screening test. His 12 years of working at the biggest technology company in the world, have taught him a lot about how important a mission-driven workplace is. 

"Google did a great job of recognizing importance of having a great team going after the big challenges," he said. 

"We’re putting together best team of scientists with the best understanding of cancer biology, the best big data and informatics and build the infrastructure it takes to do this," he said.  "That way we can see the patterns, correlations, data that will then feed the predictions and hypotheses and give us a better understanding of cancer biology."

Where they're starting

The idea behind a cancer-screening test is to identify the tiny bits of cancer DNA that are hanging out in our blood but currently undetectable. If Grail is successful, it'll be the first to pull off a cancer-detecting blood test that works proactively. The concept is similar to liquid biopsy tests, which use blood samples to sequences genetic information in that blood to figure out how tumors are responding to a certain cancer therapy.

With one simple blood draw, Grail's plan is to sequence and screen for those bits with the hope that it will help catch cancer before it starts to be a full-blown problem. There's been a team of about 30 working within Illumina laying out the groundwork for the test for at least a year, and the group officially received their Grail job offers last week.

For the next two years, the focus will be on optimizing the technology of the test that's in the making. Grail's working with health systems and research institutions like Memorial Sloan Kettering to do this.

Once they work out the kinks, Huber expects to do the largest-ever clinical trial to see how the cancer screening works in practice — there's nothing more frightening than the thought of a misdiagnosis for cancer. 

That is going to be three or four years away, he said. If it means running the screen on millions of people and waiting to see if the test proved accurate, Grail is many more years away from reaching its goal, even at "tech-speed."

This timeline is a point that Huber is keen to remind people of. He does this by pointing out his start date: February 29. 

"I think starting on Leap Day underscores long-term mission we have," he said. Because, get it? He'll technically only have an anniversary every four years.

Disclosure: Jeff Bezos is an investor in Business Insider through his personal investment company Bezos Expeditions.

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DNA is probably best known for its iconic shape — the double helix that James Watson and Francis Crick first described more than 60 years ago. But the molecule rarely takes that form in living cells.

Instead, double-helix DNA is further wrapped into complex shapes that can play a profound role in how it interacts with other molecules.

“DNA is way more active in its own regulation than we thought,” said Lynn Zechiedrich, a biophysicist at Baylor College of Medicine and one of the researchers leading the study of so-called supercoiled DNA. “It’s not a passive [molecule] waiting to be latched on to by proteins.”

Zechiedrich’s newest findings, published in Nature Communications in October, capture the dynamic nature of supercoiled DNA and point to what could be a new solution to one of DNA’s longstanding puzzles.

The letters of the genetic code, known as bases, lie hidden within the helix — so how does the molecular machinery that reads that code and replicates DNA get access? Specialized proteins can unzip small segments of the molecule when it’s replicated and when it’s converted into RNA, a process known as transcription. But Zechiedrich’s work illustrates how DNA opens on its own. Simply twisting DNA can expose internal bases to the outside, without the aid of any proteins. Additional work by David Levens, a biologist at the National Cancer Institute, has shown that transcription itself contorts DNA in living human cells, tightening some parts of the coil and loosening it in others. That stress triggers changes in shape, most notably opening up the helix to be read.

The research hints at an unstudied language of DNA topology that could direct a host of cellular processes. “It’s intriguing that DNA behaves this way, that topology matters in living organisms,” said Craig Benham, a mathematical biologist at the University of California, Davis. “I think that was a surprise to many biologists.”

No time to relax

To get a sense for supercoiled DNA, imagine twisting a piece of string. Let the string go, and it unwinds. Twist it enough, and it folds back on itself. The degree of twist puts stress on the string, which governs the shape it takes.

DNA behaves in a similar fashion. Like the string, it prefers to be in its most relaxed state — the iconic double helix. But DNA rarely gets to relax. It’s subject to a continual onslaught of molecules that bind it — the enzymes that untangle, unwind and then replicate DNA; the molecules that mark which genes are active and which are silent; and the proteins that pack the lengthy molecule into a manageable size. All of these molecules contort DNA into new shapes, blocking it from the repose of the simple double helix.

These interactions represent the inner workings of the cell, the basis of all life. How the cell decides to activate a certain gene, for example, involves a complex assembly of molecules in the right place at the right time. Protein-DNA interactions also present prime targets for drugs as well as insights into disease. Imagine a drug that could block activation of a cancer-linked gene without interfering with other genes.

Unfortunately, these interactions are very difficult to study because biological molecules morph shapes so easily. A mechanic would have a hard time fixing a car if the parts constantly mutated.

To capture the complex structure of these nanoscale interactions, scientists typically crystalize the molecules, freezing their shape for the camera. The vast majority of these studies use short strands of relaxed DNA — the standard double-helix form — because they’re easy to work with and cheap to make. But that may not capture the true picture; relaxed DNA often behaves differently than that found in the cell, contorted around all manner of proteins.

Zechiedrich and her collaborators have spent the last two decades making small pieces of supercoiled DNA, whose behavior better mimics DNA in the living cell. Essentially, they take a short strand of DNA and twist it — once, twice, three times or more — either with or against the coil. Then they glue the ends together. The end result is a tiny circle of DNA coiled in one direction or another. Zechiedrich, her collaborator and Baylor colleague Jonathan Fogg and others have shown that these twisted coils dance, shimmying through a microscopic ballet. Each molecule can assume a variety of shapes, from simple circles to figure eights, racquets, handcuffs, needles and rods. “Linear DNA is stiff and inflexible,” said De Witt Sumners, a mathematician at Florida State University in Tallahassee. “But when you get it bent into a small circle, the duplex opens up and adopts a large number of interesting shapes — this is completely unexpected.”

The newest study from Zechiedrich’s lab provides the clearest picture yet of these tiny rings. The researchers captured microscopic images of individual circlets in a variety of diverse shapes. Pairing the images with sophisticated computational models created by collaborator Sarah Harris, a biologist at the University of Leeds, they were able to predict the precise movements of each molecule.

Though scientists already knew bits and pieces of how supercoiled DNA functions, the combination of microscopy and modeling in the new paper helps to create a more precise picture. “For a large part of the biological community, seeing is believing,” saidStephen Levene, a biophysicist and bioengineer at the University of Texas, Dallas, who was not involved in the study. “You can show math models, but unless you have some convincing structural data, it’s hard to get people to appreciate what’s going on.”

DNA exposed

Researchers have known since the 1970s that twisting DNA opposite the direction of the helix — called negative supercoiling — can split open the two strands. This split serves a dual purpose. It both relieves pent-up molecular stress and exposes the code hidden within the helix, granting access to the molecular machines that replicate DNA and make RNA.

But soon after that work was done, scientists developed new techniques to read the sequence of the base letters in the genome, launching the genetic sequencing revolution. “Sequencing opened up a lot of possibilities, but it also sidetracked everyone, so that [structural] questions were suddenly very passé,” said Benham.

For three decades, most scientists assumed that supercoiling probably wasn’t very important in complex cells, which have special enzymes that snip and untangle knotted DNA. These enzymes help prevent the buildup of troublesome stress. But they aren’t 100 percent effective. In 2008, Levens, the National Cancer Institute biologist, led a team that detected supercoils in human cells, reigniting interest in DNA’s higher-order structure.

Levens and collaborators found that transcription twists DNA, leaving a trail of undercoiled (or negatively supercoiled) DNA in its wake. Moreover, they discovered that the DNA sequence itself effects how the molecule responds to supercoiling. For example, the researchers identified a specific sequence of DNA that’s prone to opening when stressed, like a weak spot in an old inner tube. The segment acts as a sort of chemical cruise control; as the amount of supercoil rises and falls, it slows or speeds the pace at which molecular machinery reads DNA.

Levens says these structural changes also help DNA communicate along its length. Just as pressing an inner tube makes a weak spot bulge, changes in the shape of one part of the DNA molecule might trigger stress elsewhere along its length, which in turn might help regulate genes.

The findings align with Harris’s models, which show that supercoiling can split the two strands of the helix, rotating the DNA bases that normally lie inside the helix to the outside, a phenomenon known as base flipping. Other simulations show that twisting a bit more flips out additional bases, creating a bubble of inside-out DNA. Zechiedrich theorizes these bubbles might provide trigger points for replication or gene expression. This challenges the standard view, in which proteins latch onto DNA and launch these events. “Who’s driving the bus in cellular metabolism?” said Sumners. “It’s a very dynamic process — DNA and proteins each influences how the other acts and reacts.”

Scientists hope the results will inspire new questions and a renewed consideration of DNA’s shape and flexibility. “These experiments are going to stimulate a lot of thinking and rethinking, especially in the physics community,” said Wilma Olson, a biophysical chemist at Rutgers University in New Jersey.

Mathematicians and physicists have long been intrigued by supercoiled DNA and the role that DNA topology plays in the cell. According to Sumners, the field is ripe for exploitation with new mathematical approaches. “Mother nature clearly has a message here,” Sumners said. “The question is how to interpret it.”

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Modern humans originated in Africa, and started spreading around the world about 60,000 years ago.

As they entered Asia and Europe, they encountered other groups of ancient humans that had already settled in these regions, such as Neanderthals. And sometimes, when these groups met, they had sex.

We know about these prehistoric liaisons because they left permanent marks on our genome. Even though Neanderthals are now extinct, every living person outside of Africa can trace between 1 and 5 percent of our DNA back to them. (I am 2.6 percent Neanderthal, if you were wondering, which pales in comparison to my colleague James Fallows at 5 percent.)

This lasting legacy was revealed in 2010 when the complete Neanderthal genome was published. Since then, researchers have been trying to figure out what, if anything, the Neanderthal sequences are doing in our own genome. Are they just passive hitchhikers, or did they bestow important adaptations on early humans? And are they affecting the health of modern ones?

Some teams showed that Neanderthal DNA made its way into specific genes of interest, particularly those involved in the immune system. Others looked acrossthe whole genomeand showed that Neanderthal sequences cluster around genes that affect skin, hair, fat metabolism, and the risk of type 2 diabetes, cirrhosis, Crohn’s disease, and—bizarrely—smoking addiction (more on that later).

In a study published today in Science, Corinne Simonti from Vanderbilt University and her colleagues decided to take a different tack: They simultaneously looked at Neanderthal DNA across the entire genome and looked for associations with more than 1,600 traits and diseases. It was an unprecedentedly broad and systematic approach, made possible through an unlikely source of information: electronic medical records.

Since 2007, Vanderbilt researchers have been coordinating an 12-institute initiative called eMERGE (short for Electronic Medical Records and Genomics), analyzing the DNA of 55,000 volunteers and comparing those sequences to the patients’ medical records. Those records are goldmines of untapped data about the participants’ phenotypes—the full collection of their traits, including things like height, weight, cholesterol levels, heart function, cancer risk, and depression symptoms. Rather than looking for genes that are related to specific traits or diseases, as many large genetics studies do, eMERGE allows researchers to look for genes related to, well, pretty much anything in those records.

“We realized that it would be relatively straightforward to identify Neanderthal DNA in all these patients and analyze their [records] for a large range of phenotypes, which could speak to all kinds of traits and effects,” says  Tony Capra from Vanderbilt University, who led the new study.

And so they did. They started with 13,700 people from the eMERGE Network, and looked for associations between 135,000 Neanderthal genetic variants and 1,689 different traits. They then checked any links they found against a second group of 14,700 eMERGE volunteers. “It is an exciting study—the first systematic assessment of the phenotypic impact of Neanderthal ancestry,” says Sriram Sankararaman from Harvard Medical School, who led an earlier study on Neanderthal DNA.

Capra and his colleagues found significant associations between Neanderthal variants and a dozen phenotypes, including actinic kerastoses (patches of dry, scaly skin caused by sun exposure) and a hypercoagulable state (where blood clots form too readily in the body).

Neither of these connections were particularly surprising: “Neanderthals had been living in central Asia and Europe for several hundreds of thousands of years before modern humans, so they were better adapted to the local climate, pathogens, and diets,” Capra says. “Perhaps interbreeding gave them a heads-up on adaptations to these challenges.” For example, Neanderthal variants could have shaped the skin cells of our ancestors, allowing them to cope with varying levels of ultraviolet radiation in new parts of the world; perhaps that is why such variants affect the risk of actinic kerastoses today. Similarly, blood clots close wounds and physically trap invading microbes; by influencing clotting, Neanderthal variants could have helped early humans to cope with new diseases.

More surprisingly, though, Capra’s team also found that Neanderthal DNA affects the risk of psychiatric disorders, including mood disorders and depression (which are new and unexpected). And 29 specific Neanderthal variants seem to influence when and where genes are turned on in different parts of the brain.

Sun exposure influences depression risk, so the link between Neanderthal variants and mood disorders may again reflect their role in adapting modern humans to new climates. But that’s just a guess: “It seems Neanderthal DNA has an effect on systems that regulate our moods or behaviors,” says Capra, “but for now, I don’t feel comfortable saying more than that.”

Some headlines will inevitably claim that we can blame Neanderthals for depression, but that’s nonsense. For a start, the effect is subtle, explaining just 1 percent of a person’s depression risk. “We shouldn’t blame Neanderthals for any of these associations, which are complex traits with many things contributing to them,” says Capra. “And of course, depression is a very new concept of a disease. You can’t think of Neanderthals or our ancestors being depressed.”

Nicotine addiction—a previously known link that this latest study confirmed—“is an even more extreme case,” he adds. “There was not nicotine in those environments! It comes from New World plants.”

“The Neanderthal genes are not disease agents,” says John Hawks from the University of Wisconsin-Madison, who was not involved in the study. But they’re “there in the brain, doing things, and having some detectable effects on behavioral outcomes. That’s amazing.” He and Capra both note that working out the role of these genes might help us to understand the underlying biology behind depression and other disorders.

They might also provide insights into parts of our lives, beyond just our health. “A lot of people will misunderstand this as saying that the Neanderthal genes typically have bad medical outcomes,” says Hawks. But that’s largely because of the study’s source material: “When you’re looking at medical records, you’re only looking at the problem phenotypes. You’re not seeing anything beneficial.”

Janet Kelso from the Max Planck Institute for Evolutionary Anthropology also hopes that Capra’s approach can be extended to non-medical traits. That’s not to diminish the existing study, though: “A tremendous amount of work must have been put into ensuring that the data from all these medical records was stored in a way that made this kind of study possible,” she says. “That’s great evidence for the value of this kind of concerted data curation.”

Capra agrees. “Given some recent arguments, this study is an important illustration of why it’s so important to make data open and accessible to the broader community,” he says. “The eMERGE Network was interested in the genomics of disease. They never conceived that this resource they were creating would be a really powerful tool for answering evolutionary questions.”

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Research showing that our species interbred with Neanderthals some 100,000 years ago is providing intriguing evidence that Homo sapiens ventured out of Africa much earlier than previously thought, although the foray appears to have fizzled.

Scientists said on Wednesday an analysis of the genome of a Neanderthal woman whose remains were found in a cave in the Altai Mountains in southern Siberia near the Russia-Mongolia border detected residual DNA from Homo sapiens, a sign of inter-species mating.

Previous research had established that Homo sapiens and our close cousins the Neanderthals interbred around 50,000 to 60,000 years ago, said geneticist Sergi Castellano of the Max Planck Institute for Evolutionary Anthropology in Germany.

The new study, published in the journal Nature, indicates that additional interbreeding also occurred tens of thousands of years earlier.

Our species arose in Africa roughly 200,000 years ago and later migrated to other parts of the world.

Geneticist Martin Kuhlwilm of Spain's Universitat Pompeu Fabra, who worked on the study at the Max Planck Institute, said a very likely scenario explaining the Homo sapiens DNA in the Neanderthal woman's genome is that a small population of our species trekked out of Africa and encountered Neanderthals in the Middle East, and interbreeding occurred there.

Their journey appears to have been what researchers called a failed dispersal from Africa, with no descendants going on to colonize Europe, Asia and points beyond.

"We don't know what happened to them. It seems likely that this population went extinct, either by environmental changes or maybe direct competition with Neanderthals," Kuhlwilm said.

"This seems to have happened during a much earlier migration out of Africa than previously thought. It implies that modern humans left Africa in several waves, some of which probably went extinct."

The robust, large-browed Neanderthals prospered across Europe and Asia from about 350,000 years ago until shortly after 40,000 years ago, disappearing in the period after our species established itself in the region.

Despite an outdated reputation as our dimwitted cousins, scientists say Neanderthals were highly intelligent, with complex hunting methods, likely use of spoken language and symbolic objects, and sophisticated fire usage.

Neanderthal interbreeding with Homo sapiens had a lasting impact on human genetics. A study published last week in the journal Science revealed a link between residual Neanderthal DNA in the human genome and traits in people including depression, nicotine addiction, blood-clotting and skin lesions.

(Reporting by Will Dunham; Editing by Frances Kerry)

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The business of personal genetic testing is just starting to hit its stride.

People spend over $5 billion on genetic tests annually, according to a UnitedHealth Group report, and this is expected to increase to $25 billion a year by 2021.

As the industry explodes, people are asking a lot of questions about what genetic testing can do for them — and what unforseen implications might arise.

Anne Wojcicki, cofounder and CEO of the home DNA testing company 23andMe, sat down with astrophysicist and StarTalk Radio host Neil deGrasse Tyson to talk about how the human genome could revolutionize healthcare and biotechnology for our Innovators video series.

In the interview, Tyson asked Wojcicki what people's biggest concerns were about genetic testing. (Since 23andMe has completed over 1 million genetic tests, Wojcicki would know.)

"People usually come to us and they say two things," Wojcicki responded. "One: They say, 'I don't want to know the day I'm going to die.' And I'll say, 'We don't do that.'"

Tyson couldn't believe that people really said that, but Wojcicki assured him it was true.

Today, genetic testing can only reveal specific disease risk information for a dozen or so genes; it is nowhere close to being able to predict when someone is going to die.

"The second thing that people fear is the insurance questions," Wojcicki said. "And that's actually been rectified in large part with the Genetic Information Nondiscrimination Act, known as GINA. So you actually cannot be discriminated against for knowing your genetic information by your employer or by insurance companies … If you walked in and said, 'I have the BRCA variance for breast cancer,' they cannot discriminate based on that information."

That's true. But while health insurance companies can't discriminate against you if they know the results of your genetic tests, there's a loophole in the law that allows companies offering life insurance, disability insurance, and long-term care to do so.

Fast Company just published a story about a woman who was denied a life insurance policy because of her genetic predisposition to cancer. (She found out through a test that she had the BRCA1 gene mutation that increased her risk.)

The idea behind the loophole is that life insurance companies, for example, have to know someone's full risk profile for diseases if they are going to decide if, and how, to cover them.

But patient advocacy groups argue that it keeps people from harnessing the full power of their genetic information, and could prevent them from getting tests that could alert them to diseases they might be at risk for.

All in all, Wojcicki argued, the benefits of getting a genetic test outweigh any risks.

"Sequencing your genome will put you in control of your own health care," she told Tyson. "Genetic information is about helping you actually be as healthy as you can be."

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Veritas Genetics, a Boston-based biotech company co-founded by Harvard geneticist George Church, is claiming it can now sequence your entire genome — the genetic blueprint inside all your cells that makes you who and what you are — for less than $1,000. That price tag includes an interpretation of the results and genetic counseling.

If the service pans out, it could breach a long-standing barrier in genetic medicine.

Reaching the $1,000 genome

The so-called $1,000 genome has long been a holy grail in genetics. The company Illumina reached this milestone in 2014, but that didn't include the cost of interpreting the results, said Veritas CEO and co-founder Mirza Cifric.

"We've known now for over a year it's been possible to sequence a genome for less than $1000," Cifric told Business Insider — "the limiting factor's been the analysis."

Veritas says it was the first company to deliver the complete $1,000 genome — using Illumina's sequencing technology — in 2015, when it offered to sequence the genomes of nearly 5,000 participants in the Personal Genome Project (PGP) at Harvard Medical School.

"Now that the whole genome is this accessible, it will replace all genetic tests ... because it is all genetic tests, and much, much more," Church said in a statement.

Veritas hopes that its test, called myGenome, will make it easier for customers to access their genetic information together with their doctors to make better health decisions.

According to Veritas, the cost includes your genome sequence, analysis of around 2,000 common clinical conditions, video-based genetic counseling for certain clinical results, and lifestyle-relevant information (related to fitness or nutrition, for example). It also includes access to expert opinions from physicians at Massachusetts General Hospital, Dana Farber Cancer Institute, Boston Children's Hospital, Mayo Clinic, and others.

Veritas is not a direct-to-consumer test. It requires you to order it through your doctor. However, you can place a pre-order now through the Veritas website, pending your doctor's approval.

It's not intended to be used as diagnostic test, but rather as a screening tool, Cifric said.

A new era in genomic medicine

Most existing genetic tests only cover a portion of your genome. For example, personal genomics company 23andMe offers a genetic test for $199 based on single-nucleotide polymorphisms or SNPs — specific genetic mutations that are associated with particular traits and diseases. (In 2013, the FDA ordered 23andMe to stop selling its tests with health results because it hadn't gotten approval to provide health information to customers. As of October 2015, the company began providing limited health information to its customers again.)

But these kinds of tests may miss more than 90% of genetic variations linked to health and disease, because they only look at the part of the genome that are involved in encoding proteins, according to Veritas. The remaining parts of the genome were once considered "junk DNA," but evidence now suggests these parts have an important role to play.

Earlier this month, the company Sure Genomics announced it was offering a whole-genome test for $2,500. Unlike Veritas, Sure Genomics sells its test directly to consumers, because the company has its own physicians who gather information about your family history and order tests relevant to your specific health questions.

Now that Veritas claims to have pushed the cost down even further, it could transform the genetic testing industry.

Jeffery Schloss, director of the division of genome sciences at the National Human Genome Research Institute in Bethesda, Maryland, said he had no reason to doubt the claim, and saw this as a boost to the industry.

"I’m very much in favor of there being competition for all those aspects of the emerging industry," he told Business Insider in an email. "We like to be able to choose among Fords or Cadillacs or Mercedes or Hondas or bicycles or public transit!"

As Veritas' Cifric said in a statement, "At this price point, there is no reason to use anything but the whole genome, especially for any tests that are close to or more than the price of our whole genome."

The company will begin shipping the tests on March 30, according to its website.

This story has been updated to include comments from Veritas CEO Mirza Cifric and NHGRI director of genome sciences Jeffery Schloss.

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Most genes are in our genomes for a reason.

If they aren't able to code proteins properly, then we simply won't survive — or will be saddled with the symptoms of any number of serious diseases.

That's been the conventional thought. But geneticists are beginning to question that idea.

They're finding more and more people who are perfectly healthy despite having defective copies of a supposedly "essential" gene — and those anomalies aren't just making scientists rethink the workings of the human genome.

They may well lead to new million-dollar, life-saving drugs.

"The amazing thing about these variants is that they provide us with a model — in fact, the only model — where we can see in a living human being what happens when a particular gene is inactivated," said Daniel MacArthur, a geneticist at the Broad Institute and Massachusetts General Hospital.

Not so essential after all?

A study, published Thursday in the journal Science, reported the newest crop of these rare genetic mutations.

By sequencing genetic material from the Pakistani community of East London, in which marriage between cousins is common, the researchers were able to find a higher concentration of these disabled protein-coding genes than in other, more genetically diverse populations.

They even zeroed in on one woman who was lacking a gene that was thought to be essential for human reproduction — and found that she had had three kids.

"It was thought that if you had a knockout in those essential genes, you wouldn't be here to talk about it. Turns out, whoa, that's not necessarily the case," said Dr. Eric Topol, a cardiologist and geneticist at the Scripps Translational Science Institute, who was not involved in the study.

"These knockouts are really a genetic gift from nature that allows us to study human biology in a way we couldn't otherwise," said geneticist David van Heel of Barts and the London School of Medicine and Dentistry, and one of the study's lead authors.

Yet sometimes those knockouts are gifts in and of themselves, with repercussions well beyond the genetics community.

Genes worth billions

The most famous example emerged from the University of Texas Southwestern Medical Center, where researchers noticed that people who were missing the gene PCSK9 had remarkably low levels of dangerous cholesterol.

The link proved to be a lucrative one. In the summer of 2015, two drugs that mimic the knocking out of that gene won marketing approval for people with high cholesterol. Both are projected to earn billions for their manufacturers.

Finding other human knockout genes that might be similarly protective is no mean feat, though.

"The challenge is if we were to just take a random set of American individuals and looked for knockouts, we would actually find very few. Way less than 1 percent of the random outbred population in America has a rare knockout mutation," said MacArthur.

The solution used in the latest paper was to look at a genetically homogenous population. But MacArthur, who is something of star in the world of human knockouts, has been working on another one: reams and reams and reams of data.

'4,000 laptops' worth' of data

A few years ago, he began to compile genetic sequences that other scientists had collected into a database called the Exome Aggregation Consortium, or ExAC. Most of these people had had their genomes analyzed for diabetes or heart attack research.

But now, stripped of any information by which the patients could be identified, all 20,000 genes of each of the 60,000-plus individuals were to be made available to researchers and the public alike, along with bits of their health records.

"This was a huge amount of data," MacArthur said. "This was basically a petabyte of data, which is a thousand terabytes, so that's like 4,000 laptops' worth of data."

Already, that data has been mined for knockouts that could be used for developing new drugs. Over the next few months, MacArthur's lab, together with industry and other academic partners, will publish a paper showing that a mutation in a single gene may protect people from ulcerative colitis.

MacArthur declined to discuss those results, as the paper is still in review, but the manuscript is already accessible on BioRxiv, a website that makes scientific papers publicly available before they have been peer-reviewed and approved for publication.

Valuable, but rare, findings

Those kinds of findings, experts say, are going to snowball, because of the 4,000 laptops' worth of data that MacArthur helped put together.

"People really do feel like it's something that has enabled research and medical efforts," said Dr. David Altshuler, a former colleague of MacArthur's at the Broad Institute, who is now chief scientific officer at Vertex Pharmaceuticals.

Altshuler described ExAC as "an example of people coming together, not to advance any one person's opportunities, [but] to allow everyone to work towards human health together."

But Colin Fletcher of the National Human Genome Research Institute warned that human knockouts found in the ExAC database wouldn't be yielding new drug targets left, right, and center. "I think it's going to be more the rare nugget, but that's incredibly valuable," he said.

As for MacArthur, the possibilities that ExAC opens up are almost too huge. "We have hundreds of things that we can work on," he said. "The challenge is trying to figure out what is the most interesting story, and what is the thing most interesting in investing the most time in."

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A new analysis of genetics-risk studies has come to the conclusion that, based on what we've seen so far, people aren't making many changes based on genetic testing results for risk of certain health concerns.

The study, published Tuesday in BMJ, builds off an earlier meta-analysis of genetics studies for risks related to smoking, diet, physical activity, and alcohol use.

Overall, it found that there was little to no effect of genetic-test results on the actions of those at risk for conditions like increased genetic risk of lung cancer among smokers, or diet changes based on obesity-risk genetic markers.

With new genetics tests that tell us everything from how to work out, to the risk of developing cancer later in life – and costs falling fast – the push to use genetics to influence lifestyles has been strong. But these results suggest that the general public may still be a ways away from having their decisions informed by genetics.

For the study, researchers based at UK universities analyzed 18 studies that looked at genetic risks and the effect of knowing about those risks on behaviors like smoking, eating habits and working out. Risks included everything from increased chances of getting certain types of cancer, diabetes or cardiovascular conditions.

For the most part, they had a hard time finding trends in which significant lifestyle changes — like quitting smoking or eating healthier — were made in response to finding out the person had an increased risk for a disease.

But there were some limitations. For example, as Brian Zikmund-Fisher, an associate professor of Health Behavior and Health Education at the University of Michigan told the Genetic Expert News Service, the vast majority of people likely didn't have the specific kinds of variants that would require them to act on the information. 

"The absence of effect shown in this meta-analysis is not surprising: the people most likely to act on genetic information are few in number and hence we tend not to find effects on average," he said. "Yet, the current lack of evidence is not proof that communication of genetic findings cannot influence patients."

"Instead, it simply suggests that communicating genetic risk will likely be very useful to a small subset of patients rather than moderately useful to everyone."

For now, it might be a little too soon to say that everyone will jump on the genetically-informed bandwagon.

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Big Data is changing the way we do science today. Traditionally, data were collected manually by scientists making measurements, using microscopes or surveys. These data could be analyzed by hand or using simple statistical software on a PC.

Big Data has changed all that. These days, tremendous volumes of information are being generated and collected through new technologies, be they large telescope arrays, DNA sequencers or Facebook.

The data is vast, but the kinds of data and the formats they take are also new. Consider the hourly clicks on Facebook, or the daily searches on Google. As a result, Big Data offers scientists the ability to perform powerful analyses and make new discoveries.

The problem is that Big Data hasn’t yet changed the way many researchers ask scientific questions. In biology in particular, where tools like genome sequencing are generating tremendous amounts of data, biologists might not be asking the right kinds of questions that Big Data can answer.

Questions

Asking questions is what scientists do. Biologists ask questions about the living world, such as “how many species are there?” or “what are the evolutionary relationships between rats, bats and primates?”.

The way we ask questions says a lot about the type of information we use. For example, systematists like myself study the diversity and relationship between the many species of creatures throughout evolutionary history.

We have tended to use physical characteristics, like teeth and bones, to classify mammals into taxonomic groups. These shared characteristics allow us to recognize new species and identify existing ones.

Enter Big Data, and cheap DNA sequencing technology. Now systematists have access to new forms of information, such as whole genomes, which have drastically changed the way we do systematics. But it hasn’t changed the way many systematists frame their questions.

Biologists are expecting big things from Big Data, but they are finding out that it initially delivers only so much. Rather than find out what these limitations are and how they can shape our questions, many biologists have responded by gathering more and more data. Put simply: scientists have been lured by size.

Size matters

Quantity is often seen as a benchmark of success. The more you have, the better your study will be.

This thinking stems from the idealistic view of complete datasets with unbiased sampling. Statisticians call this “n = all”, which represents a data set that contains all the information.

If all the data was available, then scientists wouldn’t have the problem of missing or corrupted data. A real world example would be a complete genome sequence.

Having all the data would tell us everything, right? Not exactly.

From 2004 to 2006, J. Craig Venter led an expedition to sample genomes in sea water from the North Atlantic. He concluded he had found 1,800 species.

Not so fast. He did, in fact, find thousands of unique genomes, but to determine whether they are new species will require Venter and his team to compare and diagnose each organism, as well as name them.

So, in answer to the question: “how many species are there in this bucket of water?”, Big Data gave the answer of 1.045 billion base pairs. But 1.045 billion base pairs could mean any number of species.

Size doesn’t matter, it is what we ask of our data that counts.

Wrong questions

Asking impossible questions has been the bane of Big Data across many fields of research. For example, Google Flu Trends, an initiative launched by Google to predict flu epidemics weeks before the Centers for Disease Control and Prevention (CDC), made the mistake of asking a traditionally framed question: “when will the next flu epidemic hit North America?”.

The data analysed were non-traditional, namely the number and frequency of Google search terms. When compared to CDC data, it was discovered that Google Flu Trends missed the 2009 epidemic and over-predicted flu trends by more than double between 2012 and 2013.

In 2013, Google Flu Trends was abandoned as being unable to answer the questions we were asking of it. Some statisticians blamed sampling bias, others blamed the lack of transparency regarding the Google search terms. Another reason could simply be that the question asked was inappropriate given the non-traditional data collected.

Big Data is being misunderstood, and this is limiting our ability to find meaningful answers to our questions. Big Data is not a replacement for traditional methods and questions. Rather, it is a supplement.

Biologists also need to adjust the questions aimed at Big Data. Unlike traditional data, Big Data cannot give a precise answer to a traditionally framed question.

Instead Big Data sends the scientist onto a path to bigger and bigger discoveries. Big and traditional data can be used together can enable biologists to better navigate their way down the path of discovery.

If Venter actually took the next step and examined those sea creatures, we could make a historic discovery. If Google Flu Trends asked “what do the frequency and number of Google search terms tell us?”, then we may make an even bigger discovery.

As we incorporate Big Data into the existing scientific line of enquiry, we also need to accommodate appropriate questions. Until then, biologists are stuck with impossible answers to the wrong questions.

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Our species almost didn't make it.

Around 70,000 years ago, humanity's global population dropped down to only a few thousand individuals, and it had major effects on our species.

One theory claims that a massive supervolcano in Indonesia erupted, blackening the sky with ash, plunging earth into an ice age, and killing off all but the hardiest humans.

Scientists now disagree on that idea (more on this in a moment), but it's clear we came dangerously to our end.

The great bottleneck

Almost getting wiped out put a lot more pressure on our ancestors and caused what's known as a genetic bottleneck, which greatly decreases the genetic variation in a population.

Small populations are much more susceptible to disease and environmental disasters, and unfavorable genetic traits can rapidly accumulate. Bottlenecks also slow evolutionary change, since fewer members of a species are around to pick up potentially favorable genetic mutations.

However, any rare beneficial mutations that do occur get amplified: Genes get passed around quickly in a tiny community.

Genetic bottlenecks can also cause what is known as the founder effect, where small, isolated populations drastically diverge from the original population. As humans spread across the planet, scientists believe that our population experienced multiple bottlenecks and, as a result, a serial-founder effect kicked in to create the diversity we currently see in the human race today.

Scientists have mapped these events to geographic choke points around the world, based on decreasing genetic diversity as we migrated.

One bottleneck occurred when a small group of humans left Africa. Another happened when this group split up in the Middle East, with some of us heading to Europe and others to Asia. Others occurred when we left Southeast Asia for Austronesia, crossed the Beringia land bridge into Alaska, and spread into South America through what is now Panama.

This is why African populations tend to have far more genetic diversity in their DNA than populations native to the Americas.

It's also why, when you compare humans to other species, human DNA is not very diverse when you consider our globe-spanning range.

What caused it?

The Toba catastrophe theory offers a convenient answer to the near doom written in our DNA.

The hypothesis says an enormous supervolcano eruption occurred around the same time as humanity's biggest bottleneck. Research from the late 1990s and early 2000s suggested that this eruption, on Sumatra in Indonesia, blocked the sun across much of Asia, causing a harsh volcanic winter and a 1,000-year-long cooling period on earth.

But archaeological evidence shows that human hunter-gatherer settlements in India weren't too affected by the eruption and quickly recovered. Temperature data embedded in the geology of Lake Malawi, in East Africa, also suggests that the region didn't cool off that drastically.

So what did cause that major bottleneck 70,000 years ago, if not a giant volcano and an ice age?

Scientists aren't sure, but they have some new ideas. A catastrophic spread of disease, for example, may have played a role. Or perhaps the way we currently think humans dispersed out of Africa needs some adjustment.

Whatever the case, now is as good a time as any to thank your hearty, 70,000-year-old ancestors for pushing through and surviving a perilous time in human history.

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I have to admit: I've become a genetics geek. Ever since I sent my first saliva sample to be analyzed by consumer-genetics company 23andMe, I've become obsessed with what I can find out from a sample of my DNA.

After trying out 23andMe's $199 test, I wanted to see how one of its competitors' tests stacked up.

For $99, AncestryDNA will sequence your genes to help trace your geographic roots. It doesn't provide health and wellness information, although Ancestry launched a program aimed at tracking family-health history called AncestryHealth. The company also recently teamed up with Alphabet's biotechnology company, Calico, to study the genetics of the human lifespan. 

Here's what it was like to use AncestryDNA:

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Shortly after I ordered it online, my AncestryDNA kit arrived in the mail in a small box the size of a hardcover book.

Opening it up, I found a collection tube (and a bag to seal it in once I was done), a set of instructions, and a smaller box to send it all back in.

No stranger to collection tubes, I wasn't quite looking forward to spitting up to the top of the line on this tube. As I learned previously, generating enough spit for the collection process (which helps ensure the company has enough DNA to run it a second time in case of errors) can be hard work.

Striking evidence has emerged that an ancient virus previously known only from fossil evidence has persistently infected some humans at very low levels for hundreds of thousands or even millions of years.

This ancient retrovirus is a kind of living fossil, and the discovery of an intact copy of it within the human genome poses questions as to how it has survived, and suggests others from the distant evolutionary past may lie dormant in the DNA of many species.

A retrovirus replicates by inserting its genome into that of an infected cell.

Occasionally, retroviruses infect germ line cells – those found in eggs and sperm – and if these cells survive and go on to create a new organism, that new organism will contain the retrovirus as an inherent part of its genome.

In this way the genomes of many mammals, birds and other vertebrates have accumulated many DNA sequences derived from retroviruses, known as endogenous retroviruses (ERVs). About 8% of the human genome is comprised of ERVs, for example.

The vast majority of these sequences are genomic fossils in an advanced state of decay, and incapable of producing any sort of infectious particles. Intriguingly, however, some ERVs have been co-opted to perform physiological functions within the host organism, for example to provide immunity. These domesticated virus sequences, though functional, have effectively become part of the host’s genome. They cannot produce infectious virus particles either, having generally lost the genetic equipment required to do so.

Nevertheless, there are a small proportion of ERV sequences that can make infectious particles, and these show that the genomes of host species can be colonized by infectious retroviruses. This process is poorly understood, but recent research has shown the almost unbelievable stealth with which it can occur, so that the most modern and powerful techniques are required to detect it.

The ‘Loch Ness Monster’ of the human genome

Advances in whole genome sequencing have revealed a huge diversity of ERVs in the genomes of vertebrates with considerable difference between species. Many are extremely ancient, while more recent ERVs are more intact and less degraded by mutation. In some species such as mice, the genome contains many ERVs capable of producing infectious viruses, but almost all ERVs in humans (known as HERVs) appear to be non-functional remnants of extinct retroviruses. The only exception is one group, called HERV-K, which is potentially capable of replication despite being many millions of years old.

Previous studies of HERV-K sequences in the human genome have indicated that it has been recently active in humans, and that it could even still circulate through infection. This recent study’s co-authors, Julia Wildschutte and Zach Williams, working in the laboratory of John Coffin at Tufts University, searched for evidence of HERV-K using data from the 1000 Genomes Project and the Human Genome Diversity Project. The team developed approaches that allowed them to dig exceptionally deep into these catalogues and establish that the human genome contains a total of 36 unique HERV-K copies not present in the standard, reference human genome sequence– including 19 new discoveries.

Most intriguingly of all, one of these new discoveries was an intact virus without any of the mutations that would be expected to degrade its function. The discovery of an intact virus lurking in the human population strengthens the possibility that this HERV-K retrovirus has remained “alive” within humans up until relatively recently, and could still be circulating somewhere even today.

Future directions

Many questions remain: is HERV-K really still active in humans? Is it lying dormant, poised to re-emerge as the agent of an infectious epidemic? Or are the signs of recent HERV-K activity really just the death throes of an ancient retrovirus as it drifts slowly but surely toward extinction?

It may be that by existing in a near-dormant state with only very low levels of activity, HERV-K has been able to evade the effects of mutations that would have inactivated it. Alternatively, there might be circumstances in which humans in some way gained a survival advantage that led to the presence of HERV-K in human DNA being selected for through evolutionary processes.

These hypotheses can be investigated to some extent because extinct retroviruses can be resurrected from DNA remnants and their biological properties analysed. Studying how ancient viruses were extinguished by their host species can provide clues to strategies we might use to help fight the viruses that threaten us today.

Robert Gifford, Senior Research Fellow, University of Glasgow. This article was originally published on The Conversation. Read the original article.

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The Central Intelligence Agency's venture-capital arm, In-Q-Tel, provided funding for an unlikely company: Skincential Sciences, according to documents obtained by The Intercept.

Skincential's consumer brand, Clearista, makes "skin resurfacing" products designed to make your skin clearer and more "youthful," according to its website.

But the CIA isn't just interested in youthful-looking skin.

Skincential developed a patented technology that painlessly strips a thin outer layer of skin, collecting unique biomarkers that can be used for DNA collection, according to The Intercept.

It's a system that allows the CIA to glean data about people's unique biochemistry.

"I can't tell you how everyone works with In-Q-Tel, but they are very interested in doing things that are pure science,"Russ Lebovitz, the CEO of Skincential, told The Intercept. "If there's something beneath the surface, that's not part of our relationship and I'm not directly aware. They're interested here in something that can get easy access to biomarkers."

In-Q-Tel was founded in 1999 by George Tenet, then the CIA director. Its website says it is an "independent, not-for-profit organization created to bridge the gap between the technology needs of the US intelligence community and emerging commercial innovation."

If all this sounds like something straight out of a science-fiction movie, that's because it is.

According to NPR,In-Q-Tel was named after Q, the character who makes technology for James Bond, the world's best-known fictional spy.

"We really needed something that also had appeal to a wider audience and, frankly, had some sex to it,"Jeffrey Smith, the CIA's former general counsel, told NPR in 2012.

In-Q-Tel has also been a major player in Silicon Valley over the past decade.

"Much of the touch-screen technology used now in iPads and other things came out of various companies that In-Q-Tel identified," Smith told NPR.

As for Skincential, the company has more grounded ambitions. Lebovitz, the CEO, told The Intercept that he hoped the company would be acquired by a larger beauty-products company.

At a conference in February, which brought together senior members of the intelligence community and Silicon Valley heavy hitters, Lebovitz told The Intercept he was the "odd man out" but "almost every woman at the conference wanted to come up to me to talk about skincare."

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Washington - The first examination of a long-extinct Neanderthal's Y chromosome suggests that fertility problems may have prevented Neanderthal men from successfully mating with modern human females, researchers said.

The study in the American Journal of Human Genetics is based on a male Neanderthal whose 49,000-year-old remains were found in El Sidron, Spain.

Until now, researchers have only sequenced the DNA of female Neanderthal fossils, and have found that one to four percent of European and Asian people's DNA can be traced to Neanderthals.

But researchers at Stanford University found that the Neanderthal's Y chromosome is completely lacking in males today.

The Y chromosome is one of two human sex chromosomes (X and Y) and is passed on exclusively from father to son.  

The findings suggest that Neanderthal Y chromosomes may never have been passed along when Neanderthals and humans mingled and mated some 50,000 years ago.

That could be because women may have miscarried male fetuses sired by Neanderthals, or produced very few healthy male babies that could pass on this Y-chromosome lineage.

Researchers are probing the hypothesis that modern women's immune systems might have attacked male fetuses carrying certain Neanderthal mutations.

The scientists say they found mutations in certain immune system genes from the El Sidron Neanderthal that have been blamed for transplant rejection when modern males donate organs to women.

"The functional nature of the mutations we found suggests to us that Neanderthal Y chromosome sequences may have played a role in barriers to gene flow, but we need to do experiments to demonstrate this and are working to plan these now," said senior author Carlos Bustamante, professor of biomedical data science and genetics at the Stanford University School of Medicine.

"We've never observed the Neanderthal Y chromosome DNA in any human sample ever tested," Bustamante added. 

"That doesn't prove it's totally extinct, but it likely is."

Previous studies have shown that modern human and Neanderthal lineages diverged between 400,000 and 800,000 years ago.

The Neanderthals died out some 30,000 years ago.

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DNA — or deoxyribonucleic acid, to give it its full title — is one of the basic biological building blocks of all living organisms, containing the genetic code that plays a large role in making us who we are. And now scientists have managed to use the same molecules to store digital photographs and retrieve them intact.

If the process can be refined and scaled up, that means we could see the end of data centers used by the likes of Facebook and Amazon, says the team behind the technology. Because DNA is so microscopic in size, the researchers calculate that files that would typically be stored in a data center the size of a supermarket could be squashed into a space the size of a sugar cube.

The University of Washington team, in partnership with engineers from Microsoft, was able to encode four digital images into strings of DNA. This required converting the 1s and 0s of the files into the four basic elements of DNA - adenine, guanine, cytosine, and thymine. But even more challenging was reversing the process without any errors.

If you're particularly interested in compression algorithms, Huffman coding was the approach they used. For the rest of us, that basically means distinctive markers similar to postcodes for directing mail were placed inside the synthesized, artificial DNA molecules to make them easier to locate and read back, as Gizmodo's Jamie Condliffe reports.

And it worked, with the researchers able to successfully store and then retrieve the files.

The team now thinks that DNA encoding could have real potential for archiving data in the future, though it's not so suitable for information that needs to be instantly and continually accessed.

"Life has produced this fantastic molecule called DNA that efficiently stores all kinds of information about your genes and how a living system works - it's very, very compact and very durable,"said one of the team, Luis Ceze. "We're essentially repurposing it to store digital data - pictures, videos, documents – in a manageable way for hundreds or thousands of years."

"This is an example where we're borrowing something from nature - DNA - to store information,"he adds. "But we're using something we know from computers - how to correct memory errors - and applying that back to nature."

"How you go from ones and zeroes to As, Gs, Cs and Ts really matters because if you use a smart approach, you can make it very dense and you don't get a lot of errors,"explained one of the researchers Georg Seelig. "If you do it wrong, you get a lot of mistakes."

As promising as these initial results are, there's still a lot of work to do before the first DNA data center can be opened. The procedure has so far only been tested on a small scale, and needs expensive, heavy-duty lab equipment for the time being.

The team's findings have been presented at the ACM International Conference on Architectural Support for Programming Languages and Operating Systems in Atlanta, Georgia.

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