Scientists have sequenced the full human genome for the first time

Shawn Knight

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Why it matters: Scientists are confident the complete picture of the human genome will lead to an even better understanding of human evolution and perhaps help pave the way for discoveries in the fields of neurodegenerative conditions, aging, heart disease and cancer. Such discoveries are still years away, but at least scientists now have a complete roadmap to work with.

Scientists have finally finished mapping the human genome, a project that has collectively spanned more than two decades. If this sounds like déjà vu, there's a good reason for it.

Just after the turn of the century, it was widely reported that the human genome had been fully sequenced. In actuality, only about 92 percent of it had been successfully sequenced. The remaining eight percent of genetic material, which amounted to around 400 million letters, remained a mystery due to technological limitations at the time.

Evan Eichler, a researcher at the University of Washington who participated in the latest work as well as the original Human Genome Project, said some of the genes that make us uniquely human were in the missing eight percent.

Karen Miga, an author of one of the six studies published this week, described the missing data as large and persistent gaps that fall into pretty important regions.

"It took 20-plus years, but we finally got it done," Eichler added.

The team's work was first shared in preprint last year, but the fully peer-reviewed work is now available in the journal Science.

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Excuse me but this was done over 10 years ago and by two different companies. Strange that none of the news services, scientists, etc. reported they were 8% short, especially since there was a significant prize awarded for the winner ..... This sounds more like the kind of claim you would hear from MicroSludge or Fakebook, doesn't it?
 
Excuse me but this was done over 10 years ago and by two different companies. Strange that none of the news services, scientists, etc. reported they were 8% short, especially since there was a significant prize awarded for the winner ..... This sounds more like the kind of claim you would hear from MicroSludge or Fakebook, doesn't it?
Dude you can literally click on the link to the science.org paper yourself. Science.org also widely referred to as Science magazine, is the peer-reviewed academic journal of the American Association for the Advancement of Science (AAAS) and one of the world's top academic journals.
 
I certainly don't remember them reporting that it was only 92% complete. In fact I just pulled up a fairly in depth article from the Guardian (fairly serious paper in the UK) and there's no mention of it not being complete in 2013. Maybe it was just bad reporting? Maybe, in 10 years, we'll find out that this decoding is only 98% complete?
 
Popular science articles often exaggerate. Most "breakthroughs", while important for advancing our collective knowledge, are not that revolutionary, but incremental. It takes hard work to take a laboratory breakthrough to impact the world, but laboratory work is crucial nonetheless.

@mbk34, the abstract mentions that the Y chromosome mapping may still have gaps.

There are also mentions of models making predictions of human genomes within the article. This makes sense, as each person has a unique genome. So "the complete human genome" mapping may still have limits in this regard. Indeed:

"CHM13 lacks a Y chromosome, and homozygous Y-bearing CHMs are nonviable, so a different sample type will be required to complete this last remaining chromosome. However, given its haploid nature, it should be possible to assemble the Y chromosome from a male sample using the same methods described here and supplement the T2T-CHM13 reference assembly with a Y chromosome as needed.

Extending beyond the human reference genome, large-scale resequencing projects have revealed genomic variation across human populations. Our reanalyses of the 1KGP (25) and SGDP (42) datasets have already shown the advantages of T2T-CHM13, even for short-read analyses. However, these studies give only a glimpse of the extensive structural variation that lies within the most repetitive regions of the genome assembled here. Long-read resequencing studies are now needed to comprehensively survey polymorphic variation and reveal any phenotypic associations within these regions.

Although CHM13 represents a complete human haplotype, it does not capture the full diversity of human genetic variation. To address this bias, the Human Pangenome Reference Consortium (59) has joined with the T2T Consortium to build a collection of high-quality reference haplotypes from a diverse set of samples. Ideally, all genomes could be assembled at the quality achieved here, but automated T2T assembly of diploid genomes presents a difficult challenge that will require continued development. Until this goal is realized, and any human genome can be completely sequenced without error, the T2T-CHM13 assembly represents a more complete, representative, and accurate reference than GRCh38.
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In short, the last bit of the paper says that the Y chromosome is not included in their model and that additional work is required to be able to handle the person-to-person variations of a genome. But, until we can accurately and (relatively) effortlessly sequence any human's genome, their reference model, named T2T-CHM13, is the "more complete, representative, and accurate reference" than a competing model, GRCh38.
 
The article is clearly titled "Scientists have sequenced the full human genome for the first time". Surely techspot isn't lying to us? :O
I can't blame media outlets for using sensational headlines: the scientists themselves were a little sensational. The paper is titled "The complete sequence of a human genome". There's a section heading called "A truly complete genome". Their accomplishment is impressive, but they flatly admit that "CHM13 lacks a Y chromosome, and homozygous Y-bearing CHMs are nonviable, so a different sample type will be required to complete this last remaining chromosome."
So roughly half of the human population out there has a chromosome that isn't in their model.
 
I can't blame media outlets for using sensational headlines: the scientists themselves were a little sensational. The paper is titled "The complete sequence of a human genome". There's a section heading called "A truly complete genome". Their accomplishment is impressive, but they flatly admit that "CHM13 lacks a Y chromosome, and homozygous Y-bearing CHMs are nonviable, so a different sample type will be required to complete this last remaining chromosome."
So roughly half of the human population out there has a chromosome that isn't in their model.
Also it highlights the public's at larges ignorance of the complexities of biology. Most peoples understanding is frozen in some remote highschool understanding of biology. The13-year-long sequencing cost over 5 Billion dollars (adjusted for inflation) included over 20 universities and Millions of man hours.
 

I certainly don't remember them reporting that it was only 92% complete. In fact I just pulled up a fairly in depth article from the Guardian (fairly serious paper in the UK) and there's no mention of it not being complete in 2013. Maybe it was just bad reporting? Maybe, in 10 years, we'll find out that this decoding is only 98% complete?

Yes it was bad reporting. This is common as corporate press often makes a sensational headline out of half reading a study abstract.
 
The future of biowarfare and Eugenics looks brighter than ever!!!
Because the human genome is doing so well when it comes to not destroying the planet/human life (to say nothing of all the species we plunge into extinction without batting an eye).

The WHO's latest report says 99% of people are breathing polluted air. Good ole top-quality sacrosanct human genome in action. I suppose we really win when we get to 100%.

What is the term for someone claiming a science is a pseudoscience? That's what happened with Eugenics.

What it really is, the actual science, is the pursuit of improvement to the genome and thus quality of life for human beings. What it's not is racism and other nonsense with a scientific veneer. Yet, the latter is the only thing practically anyone can possibly imagine — simply because the wrong people handled things the wrong way once upon a time.

So, let's jettison the entire scientific field, out of fear and loathing.

The reality is that parents want their kids to be smarter, happier, better-looking, more successful, better at sports, better at tests, et cetera. Parents don't say 'Gee, I would be so furious if my kids weren't average in every respect!' And who gazes into a mirror to imagine themselves as more frumpy and ordinary? Who makes that the goal other than actors/actresses on temporary assignment.

Our entire society prides itself on pretending that meritocracy determines how much money a person gets (and thus quality of life). That is based in the concept that some people are born with better DNA than others. Well, IQ is at least partially heritable. Not having to live in extremely polluted environments when trying to succeed, of course, is also one of the crucial matters. Having nutritional food, a parent who didn't smoke and drink whilst pregnant...

Bottom line is that humanity needs to be better and the genome represents the potential for increasing IQ, reducing the percentage of unhappy people because they were born looking like the back side of a bus, and helping people to live longer lives with fewer genetic diseases.

Of course, humans love to pervert things in pursuit of their strange aesthetic ideas, as with the way dogs and cats have been bred to have pop eyes and squished noses — both of which lessen quality of life for those animals. So, pop-eyed people who are barely able to breathe because their sinuses are squished is a risk. Is that risk bigger than what we're seeing right now — the destruction of the only habitable biosphere? Worshiping at the altar of Musk is delusional. We aren't going to fix this by abandoning Earth.
 
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