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Genomenon’s Mastermind to be Integrated into SOPHiA Platform and Alamut Suite – PR Web

Posted: October 16, 2019 at 5:08 pm

(Mastermind) will help experts better and more quickly assess the impact of accurately detected genomic variants in a clinical context.

HOUSTON (PRWEB) October 15, 2019

Genomenon announced today at the American Society of Human Genetics Annual Meeting (ASHG) a partnership with SOPHiA GENETICS that includes incorporating the Mastermind Genomic Search Engine into the SOPHiA Platform and the Alamut Suite. The partnership puts the most up-to-date genomic research at the fingertips of clinical researchers performing genomic analysis worldwide.

The SOPHiA Platform is the technology of choice for streamlined Data-Driven Medicine, including clinical-grade genomic analysis, interpretation, and reporting. SOPHiA has been adopted by 1,000 healthcare institutions to date, and analyzed more than 420,000 genomic profiles - 16,000 new profiles processed each month. The Alamut Suite powered by SOPHiA is a decision-support software designed to explore and investigate variations of the human genome. Alamut helps clinical researchers in the complex tasks of genomic variants annotations, filtration and exploration.

With the addition of Mastermind, users of both technologies will be able to quickly access the genomic evidence associated with human variants, shortening the search time required to interpret a variant and assess its pathogenicity.

This partnership will allow SOPHiAs users to see a wider picture of the detected variants. A key driver in the decision is the breadth and depth of Masterminds coverage of genomic variants and published literature. Mastermind has indexed over 7 million full text articles and 600,000 supplemental data sets and covers over 5.7 million variants found in the medical literature.

This partnership will help experts better and more quickly assess the impact of accurately detected genomic variants in a clinical context. We are thrilled to be able to provide our users with all the necessary information they need to make the best possible decision for each case, said Gioia Althoff, Senior Vice President, Genomics for SOPHiA.

Were excited to partner with SOPHiA to put the most comprehensive and up-to-date genomic research in the hands of geneticists and researchers performing genomic analysis. said Mike Klein, CEO of Genomenon. The broader adoption of Genomenons Mastermind provides significant value to our quickly growing customer base around the world.

About GenomenonGenomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases. Our flagship product, the Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield and assure repeatability in reporting genetic testing results. We license our Mastermind Curated Genomic Datasets to pharmaceutical and bio-pharma companies to inform precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.

For more information, visit http://www.genomenon.com.

About SOPHiA GeneticsA leader in Data-Driven Medicine, SOPHiA GENETICS is a health tech company that developed SOPHiA, an advanced AI technology helping healthcare professionals make sense of the large amount of clinical data. SOPHiA GENETICS is democratizing Data-Driven Medicine by enabling the rapid adoption of genomic and radiomic analysis worldwide, turning data into actionable insights, and sharing knowledge through its community of over 990 healthcare institutions in 82 countries in a sustainable and inclusive way. The company's achievements and innovative approach is recognized by the MIT Technology Review "50 Smartest Companies".

For more information, visit http://www.sophiagenetics.com

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Analyzing the Conspiracist Firestorm over Notre Dame – New Ideal

Posted: at 5:05 pm

From truthers and birthers, and from Flat Earthers to QAnon, so-called conspiracy theorists have been garnering more and more attention, especially because President Donald Trump himself has been known to promote this kind of baseless speculation. While it is hard to find evidence that more people than usual have been engaging in such speculation, this doesnt make the phenomenon, or its effect on the level of rational discourse, any less of a concern.

I have been a critic of conspiracy mongering in various forums. Ive argued that one flaw with the practice is that it explains events by reference to hidden agendas of nefarious agents when appealing to the conventional motives of ordinary public figures can do the job. But Ive often been asked, how can we tell when theres something irrational about a given conspiracy theory? Dont conspiracies sometimes really happen? How can we know when were dealing with conspiracy mongers?

These are good questions, and Ive wanted for some time to answer them by doing an in-depth case study of a single, prominent case of baseless speculation about conspiracies. But often the cases are so wacky that it would insult peoples intelligence to dwell on them. So I wanted to find a seemingly plausible example, preferably one about a recent, well-known event. It would be even better if we could watch the speculation happen in real-time as the event unfolded.

Unfortunately, I knew I would have the right case study when the Notre Dame cathedral in Paris caught fire six months ago, on April 15, 2019. An iconic landmark was burning, and immediately I myself wondered if it would turn out to be terrorism. Especially because Paris has been the target of some brutal Islamist terrorist attacks in the last seven years (notably including the 2015 attacks on Charlie Hebdo and the Bataclan), I knew that some people would leap to the conclusion that this was another such case.

Indeed, as I watched commentary about the event pour in on social media, I began to see some posters conclude that it was not only possibly but even probably or certainly an act of Islamist terrorism. Their commentary, which spread as quickly as the fire itself, displayed all the hallmarks of the conspiracist mindset. In what follows Ill illustrate how people with this mindset fixated on one imagined scenario, and how they twisted logic to do it. Ill also draw some general lessons about how to avoid this mindset.

Breitbart.coms first article reporting on the fire became a repository of commentary on the event by readers, racking up a total of almost 24,000 comments. There are many other sites I could have looked at, but after many dispiriting months of reading Breitbart comment sections, I knew this would be a tinder-dry environment for conspiracist sparks to catch.

The intellectual monstrosities constructed without attention to the evidence that are often dubbed conspiracy theories are nothing of the sort. They dont even qualify as valid hypotheses.

Even now, six months after the event, no one is in a position to be certain about how this fire started. But French investigators have been working diligently and have not found evidence of foul play.4 A recent in-depth piece by the New York Times brings us up to date: we now know that a security guard paid to check fire alarms rushed to the wrong section of the building, giving the fire nearly 30 minutes to spread in the main attic of the church where it had actually started. The main possibilities being considered are an electrical short in the bell tower or in an elevator for workers, or cigarettes from workers. Even Breitbart has now reported this much, but the conspiracists in the comment section are unimpressed.

I want to be very clear: I am not claiming that the fire was an accident. The investigation is still ongoing. Evidence of foul play can sometimes emerge only late in an investigation. But such evidence has not yet emerged. Even if it eventually does, this will not validate the breathless claims about Islamist terrorism that emerged immediately after the fire.

It is important to distinguish real theories and real hypotheses from what are commonly called conspiracy theories. A theory is a sophisticated, systematic organization of evidence, a real intellectual achievement. Even to form a valid hypothesis about a matter, you first need to know a lot. The intellectual monstrosities constructed without attention to the evidence that are often dubbed conspiracy theories are nothing of the sort. They dont even qualify as valid hypotheses.

READ ALSO: An Alternative to Conspiracism's Foolish Illusions

But baseless claims about conspiracies tend to attract crackpots precisely because they are claims about secret plots. It is all too easy to claim that the reason there is no evidence for a conspiracy is that the conspirators have worked to cover it up. When claims about secret plots or coverups spread quickly, before there is time for the evidence to come in, its a good early sign like smoke where theres fire that the claims spreading are mere conspiracism. This is the proper pejorative term to describe the phenomenon of asserting baseless claims about the existence of conspiracies.

Conspiracism thrives on mysteries. It posits explanations for events that are actually difficult to explain, but it does not actually engage in the painstaking effort of gathering evidence in the way that scientists do. Case in point: Notre Dame conspiracists have failed to offer a scintilla of evidence that is actually relevant to establishing the claim that the fire was due to Islamist terrorism or even just arson.

When claims about secret plots or coverups spread quickly, before there is time for the evidence to come in, its a good early sign that the claims spreading are mere conspiracism.

Whats more, if the French government knows that there was arson and is lying about it, this is an allegation that itself would need evidence. There have in fact been crimes by Muslims that various European police agencies have suppressed, as in the 20152016 New Years Eve sexual assaults in Germany. We know about that because evidence of conflicting internal reports emerged. No such evidence has emerged in connection with Notre Dame. Until specific evidence of distortion or equivocation on behalf of the French police arises, this speculation is baseless.

Very typically, conspiracists will take the difficulty of explaining an event as a sign of foul play. They cant understand how an iconic structure could burn by accident: wouldnt authorities have taken precautions against this? But the absence of an explanation is simply ignorance, and ignorance per se isnt evidence of anything. Usually, conspiracists lack context and understanding because they dont have the relevant expertise, or they dont realize that certain kinds of knowledge even require expertise. Conspiracism all too often results from an indefensible antipathy to the very idea of specialized knowledge.

Conspiracists will often point to real facts and claim that these form evidence for their views. But evidence for a claim is a fact that in logic tends to support that claim. The facts conspiracists point to tend to bear only an illusion of relevance to their conclusions, an illusion driven by wishful thinking.

An elegant example of this conspiracist habit is the widely circulated claim that a mysterious figure in Muslim garb could be seen in grainy video footage moving through the Notre Dame bell tower as the fire raged.5 The claim is odd enough for assuming that a terrorist would stay on the scene of the crime dressed for evening prayers even as firefighters were swarming about. As usual, a much better explanation turned out to be available: Americans are unfamiliar with the uniform of French firefighters. Later, less grainy footage revealed it to be exactly that.6

Usually, conspiracists lack context and understanding because they dont have the relevant expertise, or they dont realize that certain kinds of knowledge even require expertise.

Most of the apparent evidence that Notre Dame conspiracists mustered in the first place concerned not specific facts about the scene of the fire, but facts about the surrounding context of European life. They point to the indisputable fact that there is a problem with Islamist terrorism in Europe. And there have been real incidents of Muslim attacks, and other planned attacks, on French churches. But there are many fires in France, and doubtless many accidental ones at old churches especially at those that lack fire suppression systems and are having to lay off security staff due to budget problems.7,8 What do such general facts help prove about the fire at Notre Dame?

To defend the claim that there is reason to think the Notre Dame fire was an Islamist attack, the web site Jihad Watch pointed to a story at Breitbart claiming that there is an average of three church attacks per day in France. Within a certain timeframe, that was true. But in a display of the conspiracist mentalitys lack of concern for the facts, one commenter on the Jihad Watch post jumps from this statistic (which included many cases of mundane vandalism) to the claim that there were as many attacks on churches in France due to the religion of peace [i.e., Islam]. In point of fact, nowhere in the Breitbart story or its French source are the perpetrators of these acts of vandalism identified.9

Perhaps sensing the need for some specific evidence, web sites like Alex Joness conspiracy-mongering Infowars relayed the news that a journalist had tweeted that a friend of his who works at Notre Dame had told him that other staff at the cathedral told him that the fire was intentional.10 Aside from the fact that this does not specify who is supposed to have set it intentionally, it is readily classifiable as hearsay about hearsay, so it is no surprise that the journalist eventually deleted the unreliably sourced tweet.

The closest thing there is to specific evidence of anything like foul play at Notre Dame is a fact very few of the conspiracist commenters saw fit to reference. It is true that several Muslims were arrested in 2016 on the suspicion of plotting an attack against Notre Dame. One of them, a woman who aspired to join ISIS, was sentenced just days before the Notre Dame fire itself.11

READ ALSO: Bayer and Ghate Chat on Rands View of Conspiracy Theories

In the meantime, without such evidence, looking at statistics about attacks by Muslims in France and seeing a case for Islamist terrorism at Notre Dame is little better than squinting at grainy footage and seeing the vague outlines of a mysterious figure in Muslim garb.

One additional hallmark of conspiracists disregard for the pursuit of the truth is that their claims have no clear identity. The content of their assertions shifts as new evidence comes in, sometimes in a way that blatantly contradicts their previous claims.

For instance, consider the idea that the French authorities would not disclose the fact that Muslim terrorists were responsible for the fire even if they actually did discover indisputable evidence of an Islamist attack. At the same time, when conspiracists want to show that some Muslims have planned or executed church attacks in France, they appeal to the reports of French authorities.12

The facts conspiracists point to tend to bear only an illusion of relevance to their conclusions, an illusion driven by wishful thinking.

The standards shift and the claims contradict because their source is not evidence, but imagination. It is easy to hear the reports of an investigator and simply imagine, what if theyre lying? A similar use of the imagination is the attempt to explain how a proposed arson might have occurred. How was the fire started? It could have been workers, they say, because we can imagine workers starting fires. Were any of the workers Muslims? We can imagine the companies being pressured to hire a group of diverse workers, they say.14 What if all of the workers claim to be Catholics? We can imagine they are lying, and they are secretly Muslim.15 How could the arson have been carried out if the workers werent present? We can imagine it was incendiary balloons!16 Or even better, we can imagine an improvised incendiary drone!17

The use of arbitrary possibilities is one of the most classic hallmarks of conspiracism. Even to say maybe with a serious face, in the manner that a detective identifies and investigates the suspect of a crime, requires at least a little bit of specific evidence, otherwise it too is arbitrary. Arbitrary possibilities devised by the imagination in defiance of the need for evidence are the stock-in-trade of the conspiracist. They are what allow any fact to be evidence of anything the conspiracist would like, allowing their claims to shift with the wind. They are, in particular, what allows the conspiracist to insulate his case from refutation. The authorities say there is no evidence of terrorism? Maybe they are lying. But this is the argumentation of a shyster lawyer, not an investigator who is serious about the truth.

What creates the conditions for conspiracism to spread? There are many factors, but one should be highlighted in particular.

In the case of the Notre Dame fire, we have already seen how some European authorities have been less than transparent about the challenge of the recent influx of Muslim immigrants into the region after the Syrian civil war. Much of the Western press has aided and abetted this reticence: it has under-covered the extent of the problem with Islamist terrorism both in Europe and around the world. Several publications even insisted that French authorities had ruled out arson and terrorism.18 But the most the Paris prosecutor Rmi Heitz said was: There is no indication that this was a deliberate act.19 This only means that no specific evidence was found pointing to terrorism or arson, not that these had been ruled out.

Arbitrary possibilities devised by the imagination in defiance of the need for evidence are the stock-in-trade of the conspiracist. This is the argumentation of a shyster lawyer, not an investigator who is serious about the truth.

But as one commentator recently put it:

Progressive bias in the mainstream media is quite real and has been getting markedly worse in recent years. . . . But this does not justify claiming that the New York Times or CNN are just as bad as Alex Joness conspiracy site, Infowars, or embracing the pro-Trump camps assertions that mainstream coverage of the Trump/Russia story amounted to a hoax.

Even as we must be willing to identify non-objective reporting, we must not fall for the siren song of conspiracism as the alternative. The only acceptable alternative is to be objective about our interpretation of the news.

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Ancestry launches DNA health service that will compete with 23andMe – USA TODAY

Posted: at 5:01 pm

Heard about Ancestry DNA but nervous to try it out yourself? Two of our employees took the test to find out how it works and if it's worth it. Melissa Rorech, Reviewed.com

Ancestry has long appealed to people eager to learn about their family roots. Now thecompany known for its popular DNA kits is diving into a new area of discovery health.

Tuesday, Ancestry launchedAncestryHealth, built around two DNA-screening-based offerings that are designed to help customers determine whether they have predispositions for certain diseases and disorders.

The basic AncestryHealth Core servicepromises a set of personal healthand wellness reports based on the DNA samples you submit that you can share with your medical provider. These physician-ordered and -certified lab tests will use genotyping technology that may help uncover potential genetic risks related toheart disease, hereditary cancers and blood-related disorders,as well as the risks associated with carrying certain genes(cystic fibrosis, Tay-Sachs or sickle cell anemia).

Oversight will be provided by Ancestry partner PWNHealth, an independent network of board-certified physicians and genetic counselors. When you get started, youll be asked a series of questions related to your health history.

The Core service costs $149 and includes the kit for submitting your DNA.If you are anAncestryDNA member, you can add AncestryHealth Core for $49; theres no need to submit a new DNA sample.

AncestryHealth will provide reports on your genetic predispositions for certain diseases or disorders.(Photo: Ancestry)

The second offering, AncestryHealth Plus, is a subscription service launching in early 2020, that will use a next-generation sequencing (NGS) platform to deliver far more in-depth data on an expanded set of health and wellness conditions. These include risks associated with the nervous system and connective tissues. The Plus service will initially be made available only to AncestryDNA members. It will cost $199 with a recurring subscription fee of $49 for six months of updates.

Your genes dont need to be your destiny, says Ancestry CEO Margo Georgiadis. Understanding your familial and inherited health risks can help you take action with your doctor to improve your chances of better health outcomes."

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Ancestrys chief rival, 23andMe, already provides services built around DNA and health. Ancestry has had designs on the health market for years, and in 2015, it launched an alpha version of a tool to helpfamilies get a better handle on their health. The service never really went very far, and it has taken this long for Ancestry to jump back in.

When it comes to DNA and health, people generally fall into three buckets: those who want to know everything, those who want to know nothing (not someone likely to follow this path in the first place) and people somewhere in the middle.

If a potential issue is discovered,customers can take advantage of genetic counseling support (webinars, FAQs and such) from PWNHealth that are included as part of both services.

Customers will maintain full consent and control over their private health data, says Marjan Champine, genetics counselor manager at Ancestry. They will have the option to supply data for research purposes, but it is entirely up to them.

If you are an active AncestryDNA member engaged in genealogy, Champine says, youll be able to pull in the structure of your family history into a tool on the health side,butgenetic health data will benot show upon the genealogy side.

Champine says there is no mechanism within the Ancestryservice to share health information with family members.

There is otherwise a partition between these two areas of the business, she says.

Email:ebaig@usatoday.com; Follow @edbaig on Twitter

Read or Share this story: https://www.usatoday.com/story/tech/2019/10/15/ancestry-launches-dna-health-tests-assess-your-genetic-risks/3977076002/

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Researchers hope DNA testing may finally prove whether bones found on a remote island were Amelia Earhart’s – CNN

Posted: at 5:01 pm

The bones were found on Nikumaroro, a remote island in the western Pacific Ocean, in 1940. But it wasn't until a 2018 study that people began to suspect they could belong to Earhart. That's when researcher Richard Jantz re-examined their measurements and found they closely matched those of the missing pilot.

Erin Kimmerle, a forensic anthropologist at the University of South Florida, plans to use DNA testing to confirm the theory. Kimmerle sent samples off for DNA testing and is awaiting the results.

She was invited by National Geographic and appears in an upcoming documentary about the pilot.

Whether or not the bones are positively identified as Earhart's, Kimmerle says she sees this as an exciting opportunity to focus on the legendary woman's life, rather than the story of her death.

"I think a lot of the focus is always on the mystery," she told CNN. "And, certainly, we always want to solve that and find out what happened. But whether this is her or not, (the real value) in a historic case like this that gets so much attention is really looking at that person's life and what they achieved."

The day she disappeared from the sky

As a determined record-breaker, Earhart committed herself to becoming the first woman to fly around the world. In June 1937, she took off from Lae, Papua New Guinea, with her navigator Fred Noonan, intending to land on Howland Island in the Pacific.

On July 2, when approaching Howland Island, the pair radioed the US Coast Guard that they were low on fuel and having difficulty finding the island.

That day, the pair disappeared from the skies forever.

The US Navy and Coast Guards searched for the missing pilot and her navigator for weeks, but could never find ruins of the crash or the pair.

A symbol of women's empowerment

In 1932, she became the first woman -- and the second pilot after Charles Lindbergh -- to make a solo flight across the Atlantic Ocean.

Later that year, she became to first woman to make a nonstop solo flight across the United States, beginning in Los Angeles and arriving in Newark, New Jersey, 19 hours and five minutes later.

Correction: An earlier version of this piece misspelled Amelia Earhart's name and misidentified Papua New Guinea.

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Researchers hope DNA testing may finally prove whether bones found on a remote island were Amelia Earhart's - CNN

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Its Possible to Inherit More DNA From One Parent Than the Other – The Atlantic

Posted: at 5:01 pm

Read: The genetic legacy of the Spanish inquisition

I was really excited to see this paper, says Wendy Robinson, a medical geneticist at the University of British Columbia who was not involved in the study. She had suspected that uniparental disomy occurs in healthy people more often than reported. But until recently, healthy people were not taking DNA tests by the millions. A doctor might see a few patients with an unusual disorder, order DNA tests to discover uniparental disomy, and then publish a paper. Its like only searching for flowerpots under streetlights and concluding that every flowerpot must be under a streetlight.

The people in 23andMe and U.K. Biobank, on the other hand, skew healthy, and it turns out that even healthy people can have what might seem to be big genetic anomalies. I like to say its normal to be abnormal, Robinson says. She adds that uniparental disomy sometimes comes up in prenatal tests, and the results can make parents anxious because the existing scientific research is essentially a catalog of everything that can go wrong. This study might add some reassurance. Just because you have that doesnt automatically mean theres going to be anything wrong with your child, she says.

Uniparental disomy is the result of an error during meiosis, the process that forms eggs and sperm. Scientists have proposed different mechanisms, but the most common scenario probably goes like this: The error in meiosis gives the egg or sperm an extra copy of one chromosome, so the resulting embryo ends up with three copies on it. Sometimes, these embryos are spontaneously aborted, but other times, they are able to go through trisomy rescue, in which some cells lose that extra third chromosome and eventually outcompete the non-normal cells. The resulting child ends up with the right number of chromosomes, but not necessarily one from each parent.

This is all much more complicated than the standard story of sperm meets egg, yet the result is still a healthy child. It goes against so many of the rules of biology youve memorized in school, says Priyanka Nakka, a postdoctoral fellow at Boston Childrens Hospital and former 23andMe intern who co-wrote the study. Scientists have theorized and later discovered other ways that conception can go very much awry yet still result in healthy children, such as sesquizygotic twins.

When uniparental disomy does lead to health problems, it is for one of two reasons. First, a child might inherit two copies of a rare, recessive mutation from one parent. Second, some genes are normally turned off or on depending on which parent theyre inherited from in a phenomenon called genomic imprinting. That means inheriting two copies from the same parent can cause various health issues. For example, two maternal copies of chromosome 15 leads to Prader-Willi syndrome; two paternal copies leads to Angelman syndrome. They are distinct genetic disorders with very distinct symptoms.

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DNA is the future for data storage. That future is coming very soon. – SynBioBeta

Posted: at 5:01 pm

We have read how DNA data storage is about to go viral. At SynBioBeta 2019, this was made even more clear after a panel discussion of leaders in the field forecasted that costs for storing information in DNA could drop to $100 per terabyte in as little as five years with the right investment. While challenges remain for automating the DNA reading/writing process, experts are increasingly leaning towards DNA as a long-term information storage solution, particularly for archiving culturally significant data.

A lot of our interactions every day are mired in data transfer, said Henry Lee, co-founder of Kern Systems.

From cat memes to satellite photos, the amount of data were generating worldwide is growing exponentially. The technologies for storing that data are not advancing as quickly. Fortunately, nature has evolved its own elegant solution for information storage: DNA.

DNA stores all of the information required to make a human or a plant in an incredibly tiny package. A small but growing group of scientists is now working to replicate that storage strategy to preserve digital data.

Its all based on translating bits into bases, said Karin Strauss, Principal Research Manager at Microsoft. Every two bits of information translates into one of the four DNA nucleotides. Once the sequences are mapped out in software, the DNA is synthesized

The other half of the DNA storage equation is recovering the bits (or reading the DNA) via sequencing.

Now that we know how to read DNA, well always be able to read it, so its an eternally relevant means of data storage, said Strauss.

DNA synthesis and DNA sequencing technologies were not designed for writing and reading digital information. A lot of energy has gone into making perfect DNA, said Bill Peck, Chief Technology Officer at Twist Bioscience. But we might be able to resolve error-ridden sequences using good software.

Essentially when were making DNA, were actually making millions and millions of the same molecules at the same time, said Lee. In a data storage system, you can use that as redundancy. Data scientists use algorithms to encode redundancy in digital media storage devices like DVDs. That redundancy can be used to correct errors.

We very much can tolerate errors in the DNA and we are willing to give up on some quality for other benefits, said Strauss. The beauty of computer science is that we can still recover the data bit by bit.

So far, the process isnt cheap.

When DNA is synthesized, its essentially printed onto silicon chips, and silicon is expensive. Twist is pushing the limits on how much DNA you can print on a single chip, said Peck, but that innovation is also expensive. The panelists almost unanimously agreed that significant investments are required to make DNA-based data storage a practical reality.

Another significant cost involved in the writing-storage-reading workflow is labor.

There are writers and readers that are fully automated today, said Strauss, but the entire process is not automated. Everything between DNA synthesis and sequencing, such as preparing sequencing libraries, is still done by hand. Liquid handling robots can help, but Strausss team is trying to find ways to automate more affordably, so that the entire process is scalable.

Kern Systems and Molecular Assemblies are working to make synthesis more scalable by innovating the manufacturing process. Theyre focused on enzyme-based synthesis, a change in paradigm from the chemical-based methods weve been using for the last 30 years.

Investment is an issue here too.

Were trying to come up with the ink that will drive the printer to write DNA, said Bill Efcavitch, cofounder of Molecular Assemblies, but were going to need partnerships to engineer those enzymes at scale.

While increased investments are needed to make DNA-based data storage practical at scale, Lee predicts people will start using the technology within the next 2-3 years.

Government agencies could be early customers, said Efcavitch, because they need to store massive amounts of data for long periods of time.

Peck and Strauss agreed that the first use of the technology will likely be archival. There is a lot of intrinsic value in figuring out how to store culturally significant information like music for millennia, said Peck.

Down the line, Lee hopes to see the technology in many more hands. Were interested in how we can miniaturize this, he said. If the technology isnt siloed, then he expects that biohackers will help build additional apps.

Fundamentally, storing digital information in DNA is a very simple idea. When you begin to imagine how the technology might be used in the real world, it gets a lot more complicated.

For instance, when it comes to actually retrieving information that is stored in DNA, you probably dont want to have to sequence an entire library. We need to develop the DNA equivalent of a digital search function. Strausss team is using machine learning to develop search capabilities within molecules.

Right now, the focus has been on cold data data that doesnt need to be accessed very often. DNA sequencers until recently were based on batch processes, said Strauss. But new sequencing technologies such as Oxford Nanopores are more real-time. Real-time sequencing is a step in the hot data storage direction, but we still have a long way to go.

The digital storage world is so new, we really dont know what its going to look like in 5 years, said Peck. Ironically, digital storage is also relatively new, but now things arent considered archived until theyre digitized, so the technology might move faster than we think.

When it comes to hot storage the kind of instantaneous, on-demand access to data that flash drives provide the best way to make things happen is to tell a bunch of scientists and engineers that its impossible, said Peck. So, its impossible

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Researchers hope DNA may prove whether bones found on remote island were Amelia Earhart’s – WAPT Jackson

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Related video above: This Day in History: Aviator Amelia Earhart vanishes over the Pacific OceanA skull and other bone fragments that were found on a remote Pacific island may, in fact, belong to the famous female aviator Amelia Earhart.But it may take modern DNA testing to help researchers close the case.The bones were found on Nikumaroro, a remote island in the western Pacific Ocean, in 1940. But it wasn't until a 2018 study when people began to suspect they could very well belong to Earhart. That's when researcher Richard Jantz re-examined their measurements and found they closely matched those of the missing aviator.Now, Dr. Erin Kimmerle, a forensic anthropologist at South Florida University, will use DNA testing to confirm the theory. Kimmerle sent samples off for DNA testing and is awaiting the results.She was invited by National Geographic and will appear in an upcoming documentary about the pilot.Whether or not the bones are positively identified as Earhart's, Kimmerle sees this as an exciting opportunity to focus on the legendary woman's life, rather than the story of her death."I think a lot of the focus is always on the mystery," she told CNN. "And, certainly, we always want to solve that and find out what happened. But whether this is her or not, in a historic case like this that gets so much attention is really looking at that person's life and what they achieved."The bones in question were originally dismissed by a researcher as male remains. Then, for decades, the bones he incorrectly identified were missing. Last year, they turned up in a museum on the island of Tarawa.If the bones are confirmed to be Earhart's, the flurry of theories surrounding her sudden, mysterious disappearance will be quashed, confirming that she did not die in a crash but survived for some time as a castaway far out in the Pacific.The day she disappeared from the skyAs a determined record-breaker, Earhart committed herself to becoming the first woman to fly around the world. In June 1937, she took off from Lae, New Guinea with her navigator Fred Noonan, intending to finish the journey by landing on Howland Island in the Pacific Ocean.On July 2, when approaching Howland Island, the pair radioed the US Coast Guard that they were low on fuel and having difficulty finding the island.That day, the pair disappeared from the skies forever.The US Navy and Coast Guard searched for the missing pilot and her navigator for weeks, but could never find ruins of the crash or the pair.A symbol of women's empowermentThe chatter and speculation about her disappearance often eclipses her groundbreaking career as a female aviator. Though she was only 40 years old when she died, Earhart's life was filled with record-breaking accomplishments that have made her an inspirational figure to many.In 1932, she became the first woman -- and the second pilot after Charles Lindbergh -- to make a solo flight across the Atlantic Ocean.Later that same year, she became the first woman to make a nonstop, solo flight across the United States, beginning in Los Angeles and arriving in Newark, New Jersey, 19 hours and five minutes later.She was also a founder and the first president of the Ninety-Nines, an organization chartered by 99 female pilots intended to promote recruitment of female aviators and provide business and social resources to its members.

Related video above: This Day in History: Aviator Amelia Earhart vanishes over the Pacific Ocean

A skull and other bone fragments that were found on a remote Pacific island may, in fact, belong to the famous female aviator Amelia Earhart.

But it may take modern DNA testing to help researchers close the case.

The bones were found on Nikumaroro, a remote island in the western Pacific Ocean, in 1940. But it wasn't until a 2018 study when people began to suspect they could very well belong to Earhart. That's when researcher Richard Jantz re-examined their measurements and found they closely matched those of the missing aviator.

Now, Dr. Erin Kimmerle, a forensic anthropologist at South Florida University, will use DNA testing to confirm the theory. Kimmerle sent samples off for DNA testing and is awaiting the results.

She was invited by National Geographic and will appear in an upcoming documentary about the pilot.

Whether or not the bones are positively identified as Earhart's, Kimmerle sees this as an exciting opportunity to focus on the legendary woman's life, rather than the story of her death.

"I think a lot of the focus is always on the mystery," she told CNN. "And, certainly, we always want to solve that and find out what happened. But whether this is her or not, [the real value] in a historic case like this that gets so much attention is really looking at that person's life and what they achieved."

The bones in question were originally dismissed by a researcher as male remains. Then, for decades, the bones he incorrectly identified were missing. Last year, they turned up in a museum on the island of Tarawa.

If the bones are confirmed to be Earhart's, the flurry of theories surrounding her sudden, mysterious disappearance will be quashed, confirming that she did not die in a crash but survived for some time as a castaway far out in the Pacific.

As a determined record-breaker, Earhart committed herself to becoming the first woman to fly around the world. In June 1937, she took off from Lae, New Guinea with her navigator Fred Noonan, intending to finish the journey by landing on Howland Island in the Pacific Ocean.

On July 2, when approaching Howland Island, the pair radioed the US Coast Guard that they were low on fuel and having difficulty finding the island.

That day, the pair disappeared from the skies forever.

The US Navy and Coast Guard searched for the missing pilot and her navigator for weeks, but could never find ruins of the crash or the pair.

The chatter and speculation about her disappearance often eclipses her groundbreaking career as a female aviator. Though she was only 40 years old when she died, Earhart's life was filled with record-breaking accomplishments that have made her an inspirational figure to many.

In 1932, she became the first woman -- and the second pilot after Charles Lindbergh -- to make a solo flight across the Atlantic Ocean.

Later that same year, she became the first woman to make a nonstop, solo flight across the United States, beginning in Los Angeles and arriving in Newark, New Jersey, 19 hours and five minutes later.

She was also a founder and the first president of the Ninety-Nines, an organization chartered by 99 female pilots intended to promote recruitment of female aviators and provide business and social resources to its members.

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Researchers hope DNA may prove whether bones found on remote island were Amelia Earhart's - WAPT Jackson

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Why DNA Might Be the Data Storage Solution of the Future – Discover Magazine

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In the late 1990s, geneticists began studying extinct species DNA, analyzing hair and bone preserved in frozen tundra. At that time, most computers stored data on floppy disks that held just 1.44 megabytes of memory smaller than the average selfie. Today, those disks might as well be Ice Age artifacts, too. Not only is their storage capacity miniscule by todays standards, but recovering their data is practically impossible, due to the degradation of their materials and the special equipment required to read them.

The floppy disk encapsulates some of the greatest long-term challenges to computer science. According to Microsoft principal researcher Karin Strauss, future storage will need exponentially greater density to hold the data we produce as electronic devices become a greater part of our lives. Plus, long-term archiving will depend on preserving data in a format that will remain readable, on materials that wont degrade.

The answer to those challenges may lie in you, me and those same prehistoric beasts geneticists studied years ago. DNA can last for a long time, says Strauss, who is also a professor at the University of Washington. Plus, it can also store lots of information in very little space: All the genetic instructions for a mammoth lie in a single molecule. By Strauss calculation, a whole data center would be no larger than a couple cubes of sugar. And since its the code used by all life on Earth, well always be able to read it, she says.

The idea of storing data in DNA predates Microsoft and floppy disks, if not quite the woolly mammoth. DNA is a twisted ladder with rungs made of four different substrates that connect in pairs to hold the ladder together. The order of these substrates, known as bases, provides assembly instructions for the organism. In the late 1960s, scientists realized that DNA could carry other information if researchers could dictate the bases order and machines could read that order. Thanks to advances in genome sequencing and genetic engineering, these processes have finally become efficient in the past couple of decades.

Computers have also evolved to become more powerful. Still, nobody knew how to efficiently retrieve precise bits of information from DNA. That task is not trivial, says UW computer scientist Luis Ceze, who directs Microsofts research initiative with Strauss.

This year, in a joint effort by Microsoft and UW, Strauss, Ceze and their colleagues demonstrated how DNA could support future data centers. The team combined software that encodes and decodes data into DNA with machines that produce genetic material and prepare it to be read by the software. With that system, they managed to store and retrieve the word hello. The whole process took 21 hours, but, critically, it was totally autonomous. For DNA storage to be practical, we need to remove the human from the loop, says Strauss. Her robot is the first proof-of-concept for a whole new species of computing.

Still, some scientists question whether DNA is the best molecule for the job. The structure of natural DNA came from four billion years of Darwinian evolution, observes Steven Benner, a distinguished fellow at the Foundation for Applied Molecular Evolution. In that time, DNA has developed a lot of evolutionary baggage that can get in the way of smooth operation in computers, like physical differences in how base pairs behave. To address this, Benner has recently developed four artificial bases that work similarly to DNAs bases, but dont have those inherited differences.

Strauss readily acknowledges the baggage, and the long-term potential of Benners bases. But she points out that those billions of years of evolution have provided a good starting point. Equally important, she notes, theres a vast biotech industry developing the machinery that can help bring DNA storage from the lab to the data center. I think DNA is the best first molecule for molecular information technology, she says.

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DNA proved British pedophile fathered 6 kids with his own daughter – New York Post

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A British man has been found guilty of 36 counts of rape after DNA tests proved he fathered at least six children with one of his own daughters, according to reports.

The Welshman, who cannot be named to protect his victims identities, raped at least two of his daughters and even one of the girls born from his decades-long abuse, Swansea Crown Court heard.

The sicko told the girls he wanted to teach them how to have sex so they would be ready for future boyfriends and made at least one have sex with other men while he watched, according to WalesOnline.

He pretended to use witchcraft to manipulate his victims, even creating a fake mystic who told them to have sex with him, the court heard of the abuse over at least 20 years.

These sickening acts of abuse were carried out by a person that was supposed to protect and care for the victims, but instead he systematically controlled their lives, grooming them for his sexual gratification, prosecutor Hayley Fackrell told the court.

The details were so horrific jurors were offered counseling, according to the report.

I have been involved in criminal cases as a barrister and as a judge for 40 years. This is in the top three worst cases I have ever had to deal with, Judge Paul Thomas told the jury.

The man denied 36 charges of rape and one charge of sexual assault but was found guilty on all counts after just four hours deliberation, WalesOnline said.

He will be sentenced next Friday. You will not be surprised to hear a very long prison sentence awaits you, the judge told him.

Detective Chief Inspector Paul Jones of Dyfed-Powys Police said he hoped the verdict would help the victims rebuild their lives.

It is very difficult to summarize the impact of his crimes upon his victims, Jones said, according to the report.

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Over 150,000 Americans Have Rare DNA Fluke and Don’t Know It, Study of 23andMe Data Finds – Gizmodo

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A supposedly rare genetic quirk might be more common than we think, according to new research out Thursday. The study, based largely on 23andMe data, suggests that one in every 2,000 people are born with two copies of a gene from only a single parent, often with no serious health consequences.

Ordinarily, a persons egg or sperm cells have one set of the genes that make up their chromosomes (other cells in our body have two sets). When a sperm fertilizes an egg, the resulting fertilized zygote will then have two sets of 23 chromosomes, one from each parent, making 46 chromosomes in total. If all goes well, the zygote multiplies and divides until it becomes a person, one with an even allocation of gene copies from both parents.

But a sex cell can occasionally have two copies of the same gene. And if that cell becomes part of a zygote, itll have more gene copies or even a whole chromosome more than it should, which often leads to an early death. Sometimes, though, the cell can rescue itself by trimming off the third copy. And if that trimming cuts out the copy from the normal parental cell, you can be left with two copies of a gene from the same parent, a condition thats known as uniparental disomy (UPD).

Documented cases of UPD are incredibly rare, with the first being discovered in the 1980s and only around 3,300 recorded in total worldwide. Many of these cases have involved people born with a wide array of genetic conditions linked to their UPD as well as an increased chance of cancer. Some researchers, based on these reports, have estimated that anywhere from one in 3,500 to one in 5,000 people in the world might have UPD.

But according to the authors behind this new study, which includes 23andMes in-house research team, the only surefire way to know how commonly UPD happens is to study the genes of lots of people at once. And thats what they set out to do, combing through the de-identified genetic data of over 4.4 million 23andMe customers, as well as another database of nearly 500,000 UK residents.

Their research, published Thursday in The American Journal of Human Genetics, uncovered 675 people with UPD across both groups. To figure out how often UPD occurs in the general population, they also looked at the rate of UPD specifically among trios of parents and children. They found 105 cases among 200,000 such groups in the 23andMe dataset, amounting to roughly one in every 2,000 births.

So thats about twice as common as was previously thought, lead author Priyanka Nakka, a postdoctoral research fellow at Boston Childrens Hospital and former 23andMe intern, told Gizmodo.

As Nakka and her co-authors acknowledge, people who sign up for 23andMe research arent completely representative of the general populationtheyre typically wealthier, healthier, and whiter, for starters. Their methods for classifying whether someone has UPD arent foolproof either, and they didnt work at all for isolated populations of people with relatively high levels of inbreeding in their past, such as Ashkenazi Jewish people. But given the large sample sizes involved here, the study does provide a much clearer picture of UPD than anything else to date.

For those worried, its worth pointing out that many, if not most, people with UPD seem to live perfectly healthy lives without ever knowing about their genetic quirk. In the study, the team didnt find any significant association between people with UPD and known genetic diseases or conditions, even in extremely rare cases where people had an entire chromosome inherited from one parent. Extended to the current U.S. population of 327 million, that would roughly amount to around 160,000 blissfully unaware people living with UPD.

We found that a little surprising, Nakka said. Because in the past, UPD is always been written about as this genetic phenomenon that can cause imprinting disorders or unmask deleterious mutations.

Some genes in people are imprinted from one parent, meaning that only one copy is ever turned on. So if someone with UPD has two copies of a gene from their dad, but the gene is only supposed to be active from the mothers side, both copies are effectively useless, which can obviously be very bad. Other times, the two copies, if theyre completely identical, can unmask a harmful recessive mutation that wouldnt have existed otherwise. But according to Nakka, there seem to be plenty of situations where having UPD along a certain gene or chromosome doesnt cause either thing to happen.

That said, this research might help others better understand why UPD happens, how it can be harmful, and possibly even provide some insight into conditions not previously tied to UPD. The authors found evidence, for instance, that factors like having an older mother were linked to a higher risk of UPD. They also found some weak evidence that specific types of UPD in certain chromosomes could be linked to lower weight, shorter height, and autism spectrum disorder. These findings, the authors wrote, merit further research.

And more than anything, Nakka said, their research illustrates how much there is left to uncover about our biology and genes.

As a biologist, I just think its interesting that there are all of these rules of biology, like mitosis and segregation, that we take for granted. But that actually, there might be all these exceptions to them, she said.

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Over 150,000 Americans Have Rare DNA Fluke and Don't Know It, Study of 23andMe Data Finds - Gizmodo

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