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Scientists have published the first human “pangenome” — a full genetic sequence that incorporates genomes from not just one individual, but 47. 

These 47 individuals hail from around the globe and thus vastly increase the diversity of the genomes represented in the sequence, compared to the previous full human genome sequence that scientists use as their reference for study. The first human genome sequence was released with some gaps in 2003 and only made “gapless” in 2022. If that first human genome is a simple linear string of genetic code, the new pangenome is a series of branching paths.

The ultimate goal of the Human Pangenome Reference Consortium, which published the first draft of the pangenome on Wednesday (May 10) in the journal Nature (opens in new tab) , is to sequence at least 350 individuals from different populations around the world. Although 99.9% of the genome is the same from person to person, there is a lot of diversity found in that final 0.1%. 

“Rather than using a single genome sequence as our coordinate system, we should instead have a representation that is based on the genomes of many different people so we can better capture genetic diversity in humans,” Melissa Gymrek (opens in new tab) , a genetics researcher at the University of California, San Diego, who was not involved in the project, told Live Science. 

Related: More than 150 ‘made-from-scratch’ genes are in the human genome. 2 are totally unique to us. 

The newly drafted human pangenome is a collection of different genomes from which to compare an individual genome sequence. Like a map of the subway system, the pangenome graph has many possible routes for a sequence to take, represented by the different colors.   The detouring paths at the top of the image represent single nucleotide variants (SNVs), which are single letter differences. The yellow path that loops around itself and repeats the same nucleotides represents a duplication variant. The pink path that loops counterclockwise and follows the nucleotide sequence backwards represents an inversion variant. At the bottom, the green and dark blue paths miss the C nucleotide in its route and represent a deletion variant. The light blue path, which has extra nucleotides in its route, represents an insertion variant. (Image credit: Darryl Leja, NHGRI) A reference for health 

The first full human genome sequence was completed in 2003 by the Human Genome Project and was based on one person’s DNA. Later, bits and pieces from about 20 other individuals were added, but 70% of the sequence scientists use to benchmark genetic variation still comes from a single person. 

Geneticists use the reference genome as a guide when sequencing pieces of people’s genetic codes, Arya Massarat (opens in new tab) , a doctoral student in Gymrek’s lab who co-authored an editorial about the new research with her in the journal Nature, told Live Science. They match the newly decoded DNA snippets to the reference to figure out how they fit within the genome as a whole. They also use the reference genome as a standard to pinpoint genetic variations — different versions of genes that diverge from the reference — that might be linked with health conditions. 

But with a single reference mostly from one person, scientists have only a limited window of genetic diversity to study.

The first pangenome draft now doubles the number of large genome variants, known as structural variants, that scientists can detect, bringing them up to 18,000. These are places in the genome where large chunks have been deleted, inserted or rearranged. The new draft also adds 119 million new base pairs, meaning the paired “letters” that make up the DNA sequence, and 1,115 new gene duplication mutations to the previous version of the human genome.

“It really is understanding and cataloging these differences between genomes that allow us to understand how cells operate and their biology and how they function, as well as understanding genetic differences and how they contribute to understanding human disease,” study co-author Karen Miga (opens in new tab) , a geneticist at the University of California, Santa Cruz, said at a press conference held May 9. 

The pangenome could help scientists get a better grasp of complex conditions in which genes play an influential role, such as autism, schizophrenia, immune disorders and coronary heart disease, researchers involved with the study said at the press conference. 

For example, the Lipoprotein A gene is known to be one of the biggest risk factors for coronary heart disease in African Americans, but the specific genetic changes involved are complex and poorly understood, study co-author Evan Eichler (opens in new tab) , a genomics researcher at the University of Washington in Seattle, told reporters. With the pangenome, researchers can now more thoroughly compare the variation in people with heart disease and without, and this could help clarify individuals’ risk of heart disease based on what variants of the gene they carry. 

Related: As little as 1.5% of our genome is ‘uniquely human’  A diverse understanding 

The current pangenome draft used data from participants in the 1000 Genomes Project, which was the first attempt to sequence genomes from a large number of people from around the world. The included participants had agreed for their genetic sequences to be anonymized and included in publicly available databases. 

The new study also used advanced sequencing technology called “long-read sequencing,” as opposed to the short-read sequencing that came before. Short-read sequencing is what happens when you send your DNA to a company like 23andMe, Eichler said. Researchers read out small segments of DNA and then stitch them together into a whole. This kind of sequencing can capture a decent amount of genetic variation, but there can be poor overlap between each DNA fragment. Long-read sequencing, on the other hand, captures big segments of DNA all at once. RELATED STORIES—Humans’ big-brain genes may have come from ‘junk DNA’

—Rosalind Franklin knew DNA was a helix before Watson and Crick, unpublished material reveals

—Smallest genome of living creature discovered 

While it’s possible to sequence a genome with short-read sequencing for about $500, long-read sequencing is still expensive, costing about $10,000 a genome, Eichler said. The price is coming down, however, and the pangenome team hopes to sequence their next batches of genomes at half that cost or less. 

The researchers are working to recruit new participants to continue to fill in diversity gaps in the pangenome, study co-author Eimear Kenny (opens in new tab) , a professor of medicine and genetics at  the Institute for Genomic Health at Icahn School of Medicine at Mount Sinai in New York City, told reporters. Because genetic information is sensitive and because different rules govern data-sharing and privacy in different countries, this is delicate work. Issues include privacy, informed consent, and the possibility of discrimination based on genetic information, Kenny said. 

Already, researchers are uncovering new genetic processes with the draft pangenome. In two papers published in Nature alongside the work, researchers looked at highly repetitive segments of the genome. These segments have traditionally been difficult to study, biochemist Brian McStay (opens in new tab) of the National University of Ireland Galway, told Live Science, because sequencing them via short-read technology makes it hard to understand how they fit together. The long read technology allows for long chunks of these repetitive sequences to be read at once. 

The studies found that in one type of repetitive sequence (opens in new tab) , known as segmental duplications, there is a larger than expected amount of variation, potentially a mechanism for the long-term evolution of new functions for genes. In another type of repetitive sequence (opens in new tab) that is responsible for building the cellular machines that create new proteins, though, the genome stays remarkably stable. The pangenome allowed researchers to discover a potential mechanism for how these key segments of DNA stay consistent over time.

“This is just the start,” McStay said. “There will be a whole lot of new biology that will come out of this.”

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Hobbycraft-owner Modella circles WH Smith high street chain

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Hobbycraft-owner Modella circles WH Smith high street chain

The owner of Hobbycraft is among a pack of suitors circling WH Smith, the 233-year-old high street chain which has been put up for sale.

Sky News has learnt that Modella Capital, whose executives have previously been involved in retailers including Paperchase and Tie Rack, is one of a handful of parties to have held discussions with WH Smith and its advisers.

The likelihood of Modella completing a deal to acquire the 500-store chain was unclear on Monday.

Modella’s executives include Steve Curtis, whose biography on the firm’s website describes his “successful transactions [as including] Jigsaw, Paperchase, Feather & Black, Rolling Luggage and Tie Rack”.

One of the firm’s investment advisers is Jamie Constable, a prominent turnaround investor who is associated with firms including Rcapital, Quilam Capital and Blazehill Capital.

Money blog: Price of European holidays surges

City sources said that WH Smith – which confirmed at the weekend that it was considering a sale of the business following a Sky News report – was keen to wrap up a deal during the spring.

The disposal would, if completed, leave London-listed WH Smith as a company focused on its more lucrative travel retail operation in airports, railway stations and hospitals, which comprises about 1,200 stores globally.

Modella is said to be bidding against a number of other experienced retail investors, including the Apollo-backed firm Alteri, which owns the Bensons for Beds chain.

WH Smith, which is being advised by bankers at Greenhill, declined to comment on Monday, while Modella has been contacted for comment.

A sale of its high street arm would mark a watershed moment for the UK high street, which first saw the appearance of the name in 1792.

The business, which specialises in selling items such as greeting cards and stationery, employs about 5,000 people across the country.

Run by Carl Cowling, chief executive, the disposal of its high street arm and repositioning as a pure-play travel retail company was welcomed by investors on Monday, with shares in WH Smith rising by about 2.5%.

The division recorded flat operating profit of £32m last year, with WH Smith’s travel business accounting for 75% of the company’s revenue and 85% of trading profit.

There have been questions about the future of WH Smith’s high street division for many years amid carnage elsewhere in the sector, with the likes of BHS, Debenhams and Comet all ceasing to trade from physical stores in the last 15 years.

Last week, it emerged that roughly 15 WH Smith shops would be closed this year – part of an annual rationalisation of its store estate.

In 2006, the company’s news distribution arm, now known as Smiths News, was demerged into a separate London-listed company.

Reiterating its weekend response to Sky News’s report, WH Smith told the London Stock Exchange on Monday: “WH Smith plc notes the recent press speculation regarding its high street business.

“WHSmith confirms that it is exploring potential strategic options for this profitable and cash-generating part of the group, including a possible sale.

“Over the past decade, WHSmith has become a focused global travel retailer. The group’s travel business has over 1,200 stores across 32 countries, and three-quarters of the group’s revenue and 85% of its trading profit comes from the travel business.

“There can be no certainty that any agreement will be reached, and further updates will be provided as and when appropriate.”

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North Koreans ‘blow themselves up with grenades rather than risk capture’, say Ukraine soldiers

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North Koreans 'blow themselves up with grenades rather than risk capture', say Ukraine soldiers

North Korean troops appear to have temporarily pulled back from the frontline in Russia after suffering heavy losses, a Ukrainian special forces commander has told Sky News.

The commander, who goes by the codename “Puls”, said Kim Jong Un‘s men were likely either learning lessons from mistakes made during their first, bloody clashes with Ukrainian soldiers, tending to their wounded or waiting for reinforcements.

“I think they’ll be back soon,” he said, speaking at a secret base in northeastern Ukraine.

A Ukrainian soldier takes forensic samples from the body of a North Korean on the battlefield
Image:
A Ukrainian soldier takes forensic samples from the body of a North Korean on the battlefield

Interviews with several Ukrainian troops reveal remarkable details about how the North Koreans have been fighting since they arrived on the battlefield in the Russian region of Kursk last month. This includes:

• An apparent initial lack of awareness about the threats from drones and artillery, with North Korean soldiers attacking on foot “like something out of World War Two” in groups of 20, 40 or even 60 men, making themselves easy targets

• “Brainwashing” which means they keep pushing forward despite being under Ukrainian fire and with comrades being killed and wounded around them

• A desire to remove evidence of their presence from the warzone, with North Koreans in white helmets spotted trying to recover the wounded and the dead

More on North Korea

• A refusal to be taken alive, with claims that North Koreans have been seen blowing themselves up with grenades rather than risk capture. Puls even claimed a North Korean has been heard shouting “For General Kim Jong Un” before killing himself

• Poor coordination between North Korean and Russian forces because of the language barrier. One soldier claimed radio intercepts revealed North Koreans accidentally targeted Russian positions. He also said they would storm Ukrainian positions, suffering losses, but Russian troops would then fail to exploit the gains

• Better kit than many Russians, including rifles and uniform, but a lack of heavy armour, with North Koreans only moving on foot and using golf buggies to transport ammunition.

“They were all clean-shaven and perfectly groomed, like models,” said Puls.

“Every single one – no beards, unkempt hair, or bald heads… It was also hard to determine their age. They all looked between 25 and 35, maybe up to 40.”

Ukrainian special forces move in on a unit of North Koreans that has been hit by hit by drones and artillery
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Ukrainian special forces during the operation

North Korean troop deployment not officially confirmed

Ukraine and its Western allies say Pyongyang has sent 11,000 troops to join Russia’s war, focusing on bolstering infantry lines in the Kursk region where Ukrainian troops captured swathes of territory in a daring invasion last August.

Neither Kim Jong-Un nor Vladimir Putin have officially confirmed the deployment.

Ukrainian President Volodymyr Zelenskyy claimed last week that some 4,000 North Korean soldiers have already been killed or injured.

Read more from Sky News:
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Lukashenko set to extend 30-year presidential rule in Belarus

A Ukrainian commander, who goes by the codename 'Puls'
Image:
A Ukrainian commander, who goes by the codename ‘Puls’

Puls commands the 1st Combat Divers Battalion of Special Operations Forces.

His elite commandos were tasked with capturing DNA samples and documents from a unit of about 25 North Korean soldiers who were killed in a drone and artillery barrage about a fortnight ago inside Kursk.

Body camera footage from the mission has been shared with Sky News. Edited clips have also been posted on social media.

Ukrainian soldiers get forensic samples from the bodies of dead North Koreans
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Samples of saliva and hair are taken from dead North Koreans

Forensic samples taken

Ukrainian soldiers can be seen carefully sticking cottonwool buds into the mouths of dead North Korean troops to take samples of saliva and place them in an evidence bag.

They then remove the troops’ helmets, cutting clumps of hair and bagging them as well.

In addition, body armour is cut away so the Ukrainians can more easily access the documents and other items on each soldier, including military identity cards, dog tags, handwritten notes and photographs.

There was also evidence of real lives and loved ones back home
Image:
There was also evidence of loved ones back home

‘North Koreans only had ammo and chocolate’

One of Puls’s men, who took part in the operation and goes by the codename “Trainer”, said he was surprised that the North Koreans only had ammunition and chocolate as supplies to sustain them in the fight.

“Not a single soldier had a water bottle,” he said.

“They rely on the idea that they will storm through, take positions, and then eat and survive off our supplies.”

Asked what personal belongings he found, Trainer said: “There were letters. Of course, there were notebooks, notes. There were hand-drawn maps… There were photos of children, mothers, letters they tried to send home.”

Military identity cards were Russian - a seemingly clumsy attempt to hide the true ethnicity of the soldiers
Image:
Military identity cards were Russian, suggesting a bid to hide the true ethnicity of the troops

The military identity cards were Russian – a seemingly clumsy attempt to hide the true ethnicity of the soldiers.

Trainer said some of the notes appeared to be of soldiers’ experiences in battle. He said it seemed as though they were trying to learn from their exposure to modern warfare.

“It’s the experience they are accumulating for their country, for conflicts they might face in the future,” he said.

North Koreans ‘more disciplined’

Puls described how the North Koreans fought differently from the Russians.

“They are far more disciplined, with exceptional morale and determination – completely brainwashed, really,” he said.

Puls said about a fortnight ago he noticed the North Koreans pulling back.

“The Russians are standing, working everywhere along the frontline, but no Koreans,” he said.

“Either they’re analysing their mistakes, or tending to their wounds, or maybe they’re waiting for reinforcements. There’s talk that Kim Jong-Un is sending more North Koreans here. That’s the situation.”

He said intercepted Russian communications appeared to indicate they would be returning.

“They’re still present, training or waiting for reinforcements. Something is happening, they’ll be back soon.”

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Rebels in Democratic Republic of Congo say they have taken key city of Goma

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Rebels in Democratic Republic of Congo say they have taken key city of Goma

Congolese rebels say they have “taken” the key city of Goma in the Democratic Republic of Congo (DRC).

The leader of a rebel alliance that includes the M23 group reiterated on Sunday that government forces had until 3am to surrender their weapons.

It comes after 13 soldiers serving with peacekeeping forces in the DRC were killed in clashes with the rebels, United Nations officials said.

Congolese rebels and allied Rwandan forces entered the key eastern city of Goma on Sunday and the airport is no longer in use, according to the DRC’s top UN official.

“M23 and Rwandan forces penetrated Munigi quarter in the outskirts of Goma city, causing mass panic and flight amongst the population,” said the UN’s special representative in the DRC, Bintu Keita, to an emergency UN meeting on Sunday.

People displaced by the fighting with M23 rebels make their way to the centre of Goma on Sunday. Pic: AP
Image:
People displaced by the fighting with M23 rebels make their way to the centre of Goma on Sunday. Pic: AP

The strategic city of Goma has a population of about two million people and is a regional hub for security and humanitarian efforts.

Eyewitness: Sky News team in DRC attacked as civilians flee

The M23 is mainly made up of ethnic Tutsis who broke away from the Congolese army more than a decade ago.

It’s one of about 100 armed groups that have been vying for a foothold in the mineral-rich region, where a long-running conflict has created one of the world’s largest humanitarian crises.

In recent weeks, it has made significant territorial gains.

The DRC has accused neighbouring Rwanda of fuelling the M23 rebellion and has now severed diplomatic ties with it.

Rwanda has denied the claims but last year admitted it has troops and missile systems in eastern Congo to safeguard its security, pointing to a build-up of Congolese forces near the border.

“Rwanda is trying to get in by all means, but we are holding firm,” a Congolese military source told the Reuters news agency on Sunday.

“It is war, there are losses everywhere… the population must remain calm, we are fighting,” they added.

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Tensions rise in Congo with fears of ‘invasion’

The DRC has recalled its diplomats from Rwanda and asked Rwandan authorities to cease diplomatic and consular activities in the Congolese capital, Kinshasa.

A UN Security Council meeting to discuss the escalating violence was scheduled for Monday but was brought forward to Sunday.

During that meeting, France and the UK pressured Rwanda over its role in the conflict.

France called for Rwanda to withdraw its troops from Congo territory, while Britain called for an end to attacks on peacekeepers by M23 rebels receiving support from Rwanda.

UN armoured personnel carriers deploy outside Goma in the Democratic Republic of Congo on Saturday. Pic: AP
Image:
UN armoured personnel carriers deploy outside Goma in the Democratic Republic of Congo on Saturday. Pic: AP

It comes after a Congolese military governor was killed while on the frontline during a M23 offensive on Friday.

On Saturday, the Congolese army said it foiled an M23 offensive towards Goma with the help of its allied forces, including UN troops and soldiers from the Southern African Development Community Mission, also known as SAMIDRC.

The burning wreckage of a white armoured fighting vehicle carrying UN markings could be seen on a road between Goma and Sake.

A UN armoured personnel carrier burns during clashes with M23 rebels outside Goma. Pic: AP
Image:
A UN vehicle burns during clashes with M23 rebels outside Goma. Pic: AP

South Africa said nine of its peacekeepers had been killed amid the surge in fighting during the last few days.

Three Malawians and a Uruguayan were also killed, the UN said.

Read more from Sky News:
Holocaust survivor ‘jumped from death train’
Trump plans to call Starmer within 24 hours

Decades of conflicts in the eastern DRC between rival armed groups over land and resources, and attacks on civilians, have killed hundreds of thousands of people and displaced more than seven million.

Militias also include the Cooperative for the Development of the Congo (CODECO) and the Allied Democratic Forces (ADF).

The UN peacekeeping force entered the DRC more than two decades ago and has around 14,000 soldiers on the ground.

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