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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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Israel announces military operation expanding in Gaza to seize ‘large areas’

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Israel announces military operation expanding in Gaza to seize 'large areas'

Israel is beginning a major expansion of its military operation in Gaza and will seize large areas of the territory, the country’s defence minister said.

Israel Katz said in a statement that there would be a large scale evacuation of the Palestinian population from fighting areas.

In a post on X, he wrote: “I call on the residents of Gaza to act now to remove Hamas and return all the hostages. This is the only way to end the war.”

He said the offensive was “expanding to crush and clean the area of terrorists and terrorist infrastructure and capture large areas that will be added to the security zones of the State of Israel”.

The expansion of Israel’s military operation in Gaza deepens its renewed offensive.

The ceasefire between Israel and Hamas that had begun in January ended in March as Israel launched various air strikes on targets across Gaza.

The deal had seen the release of dozens of hostages and hundreds of Palestinian prisoners, but collapsed before it could move to phase two, which would have involved the release of all hostages and the withdrawal of Israeli forces from Gaza.

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26 March: Anti-Hamas chants heard at protest in Gaza

The Israel Defense Forces (IDF) had already issued evacuation warnings to Gazans living around the southern city of Rafah and towards the city of Khan Yunis, telling them to move to the al Mawasi area on the shore, which was previously designated a humanitarian zone.

Israeli forces have already set up a significant buffer zone within Gaza, having expanded an area around the edge of the territory that had existed before the war, as well as a large security area in the so-called Netzarim corridor through the middle of Gaza.

This latest conflict began when Hamas launched an attack on Israel on 7 October 2023, killing around 1,200 people and taking around 250 hostages.

The ensuing Israeli offensive has killed more than 50,000 Palestinians, according to Gaza’s Hamas-run health ministry.

Read more:
Father demands protection after Gaza aid workers’ deaths
Anti-Hamas chants heard at rare protest in Gaza

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Bodies of aid workers found in Gaza

Aid group Doctors Without Borders warned on Wednesday that Israel’s month-long siege of Gaza means some critical medications are now short in supply and are running out, leaving Palestinians at risk of losing vital healthcare.

“The Israeli authorities’ have condemned the people of Gaza to unbearable suffering with their deadly siege,” said Myriam Laaroussi, the group’s emergency coordinator in Gaza.

“This deliberate infliction of harm on people is like a slow death; it must end immediately.”

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UK

Heathrow bosses ‘warned about substation’ days before major power outage, MP committee hears

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Heathrow bosses 'warned about substation' days before major power outage, MP committee hears

Heathrow Airport bosses had been warned of a potential substation failures less than a week before a major power outage closed the airport for a day, a committee of MPs has heard.

The chief executive of Heathrow Airline Operators’ Committee Nigel Wicking told MPs of the Transport Committee he raised issues about resilience on 15 March after cable and wiring took out lights on a runway.

A fire at an electricity substation in west London meant the power supply was disrupted to Europe’s largest airport for a day – causing travel chaos for around 200,000 passengers.

“I’d actually warned Heathrow of concerns that we had with regard to the substations and my concern was resilience”, Mr Wicking said.

“So the first occasion was to team Heathrow director on the 15th of the month of March. And then I also spoke to the chief operating officer and chief customer officer two days before regarding this concern.

“And it was following a number of, a couple of incidents of, unfortunately, theft, of wire and cable around some of the power supply that on one of those occasions, took out the lights on the runway for a period of time. That obviously made me concerned.”

Mr Wicking also said he believed Heathrow’s Terminal 5 could have been ready to receive repatriation flights by “late morning” on the day of the closure, and that “there was opportunity also to get flights out”.

However, Heathrow chief executive Thomas Woldbye said keeping the airport open during last month’s power outage would have been “disastrous”.

There was a risk of having “literally tens of thousands of people stranded in the airport, where we have nowhere to put them”, Mr Woldbye said.

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Business

What are Donald Trump’s tariffs, what is ‘liberation day’ and how does it all affect the UK?

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What are Donald Trump's tariffs, what is 'liberation day' and how does it all affect the UK?

If there is a word that has dominated Donald Trump’s second term, it’s tariffs. 

Aluminium, steel, cars and champagne have all been in his firing line, while China, Canada and Mexico are the countries targeted with the heaviest costs.

Along the way, there have been threats, pauses and postponements.

So what are tariffs, what is in the pipeline – and what could all this mean for the UK?

What are tariffs and why is Trump threatening to use them?

Tariffs are taxes on goods imported into the US.

It is the importers buying the goods who pay the tariffs – therefore, American companies.

Ultimately, the intent is to protect US manufacturing and bolster jobs by making foreign-made products less attractive.

However, there is a knock-on effect: to compensate for tariffs, companies put up their prices, so customers end up paying more for goods.

Tariffs can also damage foreign countries as they make their products pricier and harder to sell.

In his second term, Mr Trump has frequently used them – or the threat of them – as a trade weapon.

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Trump’s tariffs: What can we expect?

They are a key part of Mr Trump’s efforts to reshape global trade relations, and he plans to impose a swathe of what he calls “reciprocal” taxes that would match tariffs levied by other nations.

Tariffs were also part of his playbook in his first term, when he imposed taxes on most goods coming from China and used them as a bargaining chip to force Canada and Mexico to renegotiate a North American trade pact.

On his first day back in office, the US president promised 25% tariffs on all products coming into the US from its nearest neighbours Mexico and Canada – ostensibly to force the countries to tackle illegal migration and fentanyl crossing the border.

What is liberation day?

Mr Trump has branded 2 April “liberation day”, when he could unveil the reciprocal tariffs on countries deemed to be giving the US a bad deal on trade.

The extent of potential tariffs and countries affected remains unclear, with Mr Trump at times sending mixed messages.

On 30 March, he said “all countries” could expect to be hit by tariffs.

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What is Trump’s ‘Liberation Day’?

Speaking from Air Force One, the US president rubbished a question from a reporter who asked whether it was true he was planning on targeting between 10 and 15 countries.

“Who told you 10-15 countries? You didn’t hear it from me,” he said.

When pressed on how many he was planning to hit, he said: “You’d start with all countries, let’s see what happens.”

Two days prior, he said he was open to carving out deals with countries seeking to avoid US tariffs, but that those agreements would be negotiated after 2 April.

He had previously said he “may give a lot of countries breaks, but it’s reciprocal”, adding: “We might be even nicer than that.”

How could the UK be affected?

The UK hopes an economic deal with the US will spare the country from some of the tariffs.

Sir Keir Starmer and Mr Trump have had “productive negotiations” towards a UK-US “economic prosperity deal”, Downing Street has said.

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‘Everything on table over US tariffs’

The two leaders discussed a possible deal in a phone call on Sunday and agreed negotiations will “continue at pace”, according to a statement released on Sunday 30 March.

The day before the so-called “liberation day”, Sir Keir told Sky News political editor Beth Rigby the UK was “working hard on an economic deal” with the US and said “rapid progress” has been made.

But, he admitted: “Look, the likelihood is there will be tariffs. Nobody welcomes that, nobody wants a trade war.

“But I have to act in the national interest and that means all options have to remain on the table.”

Sir Keir added: “We are discussing economic deals. We’re well advanced.

“These would normally take months or years, and in a matter of weeks, we’ve got well advanced in those discussions, so I think that a calm approach, a collected approach, not a knee-jerk approach, is what’s needed in the best interests of our country.”

Mr Trump has not explicitly said the UK is in his sights for further tariffs, though he has described VAT – a tax added on all goods and services in the UK – as unfair.

In deciding what is a reciprocal tariff for the UK, it’s possible Mr Trump could use the tax, typically 20%, to decide.

Data shows no great trade imbalances – the gap between what you import and export from a certain country – and UK figures show no trade deficit with the United States.

UK ministers have previously suggested this could be good news for avoiding new levies.

But the tariffs Mr Trump has already announced would have a big impact on the UK – particularly the car tariff.

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Business secretary hopes Trump tariffs will be ‘reversed in weeks or months’

Jonathan Reynolds, the business and trade secretary, told Sky News he is “hopeful” the tariffs can be reversed soon.

He warned: “The longer we don’t have a potential resolution, the more we will have to consider our own position in relation to [tariffs], precluding retaliatory tariffs.”

He added the government was taking a “calm-headed” approach in the hope a deal can be agreed, but said it is only “reasonable” that retaliatory tariffs are an option, echoing Sir Keir’s sentiments over the weekend.

What tariffs have already been announced?

Some tariffs have already come into effect, while Mr Trump has confirmed some that will come in on 2 April.

He has said a 25% tariff on all cars imported to the US will come into effect, with a similar tariff on car parts expected to follow in May.

This could prove even more complicated for American car makers, who source components from around the world even if the vehicle is made in the US.

Trump tariffs teaser for SEO liberation day explainer

But Mr Trump has insisted the move will “continue to spur growth”, pointing to plans from Hyundai – the South Korean car maker – to build a $5.8bn (£4.5bn) steel plant in Louisiana.

The tariff could have a huge impact on the UK’s car industry, including on manufacturers such as Jaguar Land Rover, Aston Martin and Rolls-Royce.

Official data shows the US is the UK car sector’s largest single market by country, accounting for £6.4bn worth of car exports in 2023 – 18.4% of the total.

Trump has also said he will place a 25% tariff on all imports from any country that buys oil or gas from Venezuela, which includes the US itself – in addition to imposing new tariffs on the South American country.

On 12 March, a 25% tariff on all steel and aluminium imports to the US came into effect, affecting UK products worth hundreds of millions of pounds.

The move came after he placed a 10% tax on all imports from China, which he later doubled to 20%.

He placed 25% tariffs on Mexico and Canada, but paused them for a month two days after they came into effect, meaning they are set to resume on 2 April.

The pause did not fully cover a tariff of 10% on Canadian energy products.

What has been the global response to tariffs?

There has widely been condemnation of the tariffs, especially from countries worst affected like Mexico and Canada.

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Canadian PM: ‘Tariffs are an attack’

Some have imposed, or threatened to impose, retaliatory tariffs.

China has already hit back with retaliatory tariffs covering a range of US goods, including a 15% tariff on coal and liquefied natural gas products, a 10% tariff on US crude oil and tariffs of up to 15% on key US farm exports.

Canada imposed tariffs of its own on US products, including a 25% reciprocal tariff on US steel and aluminium products and tariffs worth an estimated C$29.8bn (£16bn) on a wide range of US products including orange juice, peanut butter, alcohol, coffee and clothing.

Read more on tariffs:
It may be harder for the UK to trump metals tariffs
Stock markets tumble as Trump tariffs loom

The European Union has said it will impose retaliatory tariffs on the US, but when they will come into force is unknown.

The European Commission initially threatened to impose “countermeasures” affecting €26bn (£21.9bn) of US goods from 1 April, but later delayed this until the middle of April.

The bloc said the delay was because it wanted “additional time for discussions” with the US after Mr Trump threatened a 200% tariff on EU alcohol – including wine and champagne – if the bloc imposed duties on US whiskey.

Any tariffs imposed by the bloc would not only impact US steel and aluminium products, but also textiles, home appliances, agricultural goods and whiskey.

Why tariffs could cost you – even if Trump spares UK

Even if no tariffs are put on all UK exports to the US, consumers globally will still be impacted by the wider trade war, particularly in the US.

Economists believe that tariffs will raise costs in the US, sparking a wave of inflation that will keep interest rates higher for longer. The US central bank, the Federal Reserve, is mandated to act to bring inflation down.

More expensive borrowing and costlier goods and services could bring about an economic downturn in the US and have knock-on effects in the UK.

Forecasts from the National Institute of Economic and Social Research (NIESR) predict lower UK economic growth due to higher global interest rates.

It estimated that UK GDP (a measure of everything produced in the economy) could be between 2.5% and 3% lower over five years and 0.7% lower this year.

The Centre for Inclusive Trade Policy thinktank said a 20% across-the-board tariff, impacting the UK, could lead to a £22bn reduction in the UK’s US exports, with the hardest-hit sectors including fishing and mining.

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