Long-read DNA analysis can give rise to errors, experts warn

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Advanced technologies that read long strings of DNA can produce flawed data that could affect genetic studies, research suggests.

New methods that can read lengthy sections of genetic material—categorised by a series of letters—are up to 99.8 per cent accurate, however, in a genome of more than 3 billion letters, this may equate to millions of mistakes in the results.

These errors may falsely indicate that an individual has a genetic difference that heightens their risk of a particular disease.

Researchers say data produced by these technologies should be interpreted with caution, as it may create problems for analysing genetic information from people and animals.

Previously, genetic sequencing technologies were focused on reading short strings of DNA. These sequences would be patched together, which is time consuming and labour intensive.

This approach is useful for reading individual genes but is inappropriate for entire organisms.

Experts from the University of Edinburgh's Roslin Institute examined three recent studies reporting human genome sequences from long-read technologies. The data contained thousands of errors even after corrective software was used, they found.

Such mistakes could have major implications if these technologies are used in to diagnose patients, the team suggests.

The findings are reported in a commentary in Nature Biotechnology. The Roslin Institute receives strategic funding from the Biotechnology and Biological Sciences Research Council.

Professor Mick Watson, of the University of Edinburgh's Roslin Institute, said: "Long-read technologies are incredibly powerful but it is clear that we can't rely on software tools to correct errors in the data—some hands-on expertise may still be required. This is important as we increasingly use genomic technologies to understand the world around us."


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More information: Errors in long-read assemblies can critically affect protein prediction, Nature Biotechnology (2019). DOI: 10.1038/s41587-018-0004-z , https://www.nature.com/articles/s41587-018-0004-z
Journal information: Nature Biotechnology

Citation: Long-read DNA analysis can give rise to errors, experts warn (2019, January 22) retrieved 21 September 2019 from https://phys.org/news/2019-01-long-read-dna-analysis-errors-experts.html
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Jan 22, 2019
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Jan 22, 2019
Hi conspiracy theorist Anonym518498 :-) don't all those negatives, on everything make your head hurt :-)
With gene sequencing soon costing $100 and very fast they will just run the sequence say 20 or 30 times to catch the errors. Obviously the more times the more accurate the results.

Jan 22, 2019
The great thing about science and technology there is a way around everything (errors, even morality).
Example stem cells from embryos are being replaced with stem cells from bone, fat and skin.

Jan 22, 2019
"How many defense attorneys will take this article, completely out of context, to confuse a jury into letting a guilty perpetrator go free to crime again?"

See annoyingmousie?
That is how you "right" write a conspiracy theory!

Do pay attention,
There will be a quiz afterwards.

Jan 22, 2019
Fair warning, but it is not like we did not know about the errors. "Long-read technologies are improving rapidly, and may become the mainstay of sequencing; however, the broader application of long-read technologies are currently limited by a lower throughput, higher error rate and higher cost per base relative to short read sequencing." [ https://academic..../4996216 ] And of course hybrid long and short read methods have their uses too [ https://bmcgenomi...7-3927-8 ].

How many innocent people will this put in jail when cops use this garbage data culled from ancestry websites?


Today's ancestry data can be barcodes or SNPs, which is quite the opposite of long read technology: I doubt it is used yet for economical reasons. In general these technologies are highly useful.(see the links); it is arguable to criticize a non-science optional use. Specifically, criminology is pseudoscience

Jan 22, 2019
Specifically, criminology is pseudoscience

And today's pseudoscience is often tomorrow's hard fact science. We are constantly moving forward at a exponential rate.

Jan 23, 2019
"... today's pseudoscience is often tomorrow's hard fact science. ..."

So, when a police investigator uses phrenology to determine that you, rderkis, are a pathological criminal?

Because you have a weird shape skull?

We should accept that determination without a smidgen of doubt?

Not sure how YOU will feel about your conviction for failing a pseudo-science examination?

I guess I can be okay with it? But then I have a superior skull structure with a noble forehead, pleasing ear lobes & strong jaw.

Thereforeupon I am not only a supremely brilliant & handsome example of the pinnacle of Homo Sapient Sapient breeding.

Beyond all suspicion & the tedious rules required to rein in you lesser beings for my aristocratic behavior.

Never to face judgement by you inferior creatures.

Jan 24, 2019
Specifically, criminology is pseudoscience

And today's pseudoscience is often tomorrow's hard fact science. We are constantly moving forward at a exponential rate.


? Pseudoscience are never becoming sciences, because they are wrong by construction - astrology and homeopathy comes to mind.

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