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.”
Monday marks 20 years since the 7/7 attacks, which saw four suicide bombers kill 52 people and injure 770 others on the London transport network.
The attacks on 7 July 2005 all happened within an hour of each other, with the bombers having met at Luton railway station in the morning before heading to King’s Cross.
Shezhad Tanweer detonated his device at Aldgate, Mohammed Sidique Khan at Edgware Road, and Germaine Lindsay between King’s Cross and Russell Square – all within three minutes of 8.50am.
Habib Hussain detonated his bomb on board the number 30 bus at Tavistock Square at 9.47am.
Image: Emergency services at Aldgate station after one of the explosions. Pic: PA
Two decades have passed, but for the victims’ families, survivors and the responders, the impact is still being felt.
Sky News spoke to some of the people profoundly affected by the attacks.
Passenger went back to the tracks to save lives
Adrian Heili was in the third carriage of the westbound Circle Line train heading towards Paddington.
It was in the second carriage that Mohammad Sidique Khan blew up his device at Edgware Road, killing six people.
If Adrian hadn’t been there, it may well have been more.
He managed to get out of the train and, having previously served as a medic in the Armed Forces, instantly made it his mission to save as many lives as possible.
“Instinct took over,” he tells Sky News.
Please use Chrome browser for a more accessible video player
1:48
7/7 survivor saw ‘bodies on the track’
His bravery first brought him to Daniel Biddle, who had been blown out of the second carriage and was now trapped in a tight space between the tunnel wall and the track.
Adrian remembers crawling in blood to reach Daniel, who he now calls Danny. His left leg had been blown off, his right severed from the knee down and he lost an eye, along with suffering other extensive injuries.
He pinched shut the artery in Daniel’s thigh to stop the bleeding until paramedics got to him.
Daniel has written a book about his experiences, titled Back From The Dead, and has credited Adrian with saving his life.
Adrian eventually helped first responders carry him out. Then he went back into the tunnel several times over to assist with the evacuation of 12 other people.
He pays tribute to the first responders at the scene, who he says were “amazing”.
“Myself and another gentleman by the name of Lee Hunt were the last to actually leave Edgware Road,” he adds.
“And I remember sitting at the top of the platform on the stairs and just looking out after everyone had left.”
In his book, Daniel has been open about his struggles with PTSD after the attack.
Adrian says he has had a “very good support network” around him to help him deal with the aftermath, and adds that talking about it rather than “holding it in” has been vital.
“It still plays an effect on myself, as it has with Danny,” he says, who he has formed a close bond with.
He says PTSD triggers can be all around the survivors, from police and ambulance sirens to the smell of smoke from cooking.
“But it’s how we manage those triggers that that define us,” he says.
On the 20-year anniversary, he adds: “It’s going to be an emotional time. But I think for me, it’s going to be a time of reflection and to honour those that are not with us and those that were injured.
“They still have a voice. They have a voice with me and I’ll remember it. I’ll remember that day and that, for me, is very important.”
‘Instinctively, I decided to see if there was something I could do to help’
You may recognise Paul Dadge from the photograph below, where he’s helping a 7/7 bombing victim after she sustained severe burns to her face.
Please use Chrome browser for a more accessible video player
1:17
7/7 first responder recalls day of attack
It went viral before the social media age, featuring on the front of national newspapers, and in others across the world.
The Londoner, who was 28 at the time, was on his way to an office in Hammersmith where he had just got a job.
He passed Edgware Road, where he saw a commotion as people rushed out of the station, and an emergency responder go in.
He didn’t yet know that one of the bombers had just set off the explosive in their backpack.
“Instinctively, I decided to see if there was something I could do to help,” he told Sky News.
Paul, who was a former firefighter, made an announcement to those standing outside the station, telling them to stick together if they had been affected by whatever had happened and to wait at a shop near the scene until they had spoken to a police officer.
Many had black soot on their faces, he says, adding that he initially assumed it was due to a power surge.
Eventually the store was evacuated, so Paul went with the victims to a nearby hotel, and it was while doing so that photographers snapped the famous photos of him comforting the victim with a gauze mask, who had been badly burned.
He started noting down the names and details of those who had been injured, along with the extent of their injuries, so that he could pass them onto the emergency services.
It was only three hours after the incident that Paul found out the injuries had been caused by an attack.
“I know that after that bombing had occurred, everybody worked together as a team,” he says. “I think it’s a bit of a British thing, really, that when we’re really in trouble, we’re very, very good at working together to help each other.”
He says he is still in touch with people he met on that day, including the victim he was photographed with.
He also says the rest of his life has been “carved” by that day, and that he is now much more politically active and conscious of how emergency services respond to major incidents.
He believes emergency services are “a lot more prepared than they were on 7th July”, but adds that he still thinks they would find it “very difficult” to deal with an incident on the scale of the 7/7 attacks today.
‘What is haunting are those screams’
Sajda Mughal is a survivor of the bombing that hit a Piccadilly line train between King’s Cross and Russell Square.
She tells Sky News that about 10 seconds after leaving King’s Cross “there’s a massive bang… which was the explosion”.
“The train shook as if it was an earthquake, and came to a sudden standstill. I fell off my chair to the ground, people fell forward, lights went out.”
Please use Chrome browser for a more accessible video player
1:22
7/7 survivor: ‘We were told don’t look back’
Sajda adds: “The black smoke that was coming through, it was really intense. And then all I could hear was screams. I could hear people screaming, I could hear people shouting, someone grabbing on to me saying, ‘are you okay’.”
She was “frozen and just going into that thought process of we’re going to die, and then me thinking I haven’t said bye to my loved ones, I haven’t got married, I haven’t had kids, I haven’t seen the world.”
She says that “what is haunting from that morning are those screams and hearing ‘blood, she’s hurt, he’s hurt'”.
Sajda says that as she and others were escorted out through the carriage to King’s Cross, the emergency services told them not to turn around and don’t look back.
She thinks that was because the rescuers didn’t want them to see injured individuals, “so it was a very, very surreal, very traumatic and emotional experience”.
Sajda, who is the only known Muslim survivor of 7/7, says getting through the attack alive “turned my life around 360”.
“I took that pain and I turned it into a positive because I didn’t want that happening again. And so I left the corporate world, I left my dream to want to change hearts and minds.”
She became involved with the JAN Trust, including its work countering extremism.
“I have travelled across the UK, I’ve worked with thousands of mothers and Muslim mothers. I have helped to educate them on radicalisation. And I’ve heard from mothers whose sons… went to Syria, who joined ISIS and died.”
Calls for a public inquiry
Graham Foulkes, whose son David was killed in the Edgware Road Tube bomb, wants there to be a public inquiry into what happened.
He says a “public inquiry is the only way because at a public inquiry people can be compelled to come and give evidence. At an inquest, they can just say ‘no, I’m not coming’ and that’s what happens”.
Please use Chrome browser for a more accessible video player
1:17
7/7: ‘We should have a son’
He adds: “The fact that we’re here 20 years later, there are unanswered questions and terrorists are still slipping through, still getting past MI5, still get past MI6 and MI5, needs to be answered.
“We need to have a better system in place and by not being honest and open about what happened 20 years ago, we’ve got no mechanism in place at all.
“It’s still the same people making the same decisions that allowed MSK [Mohammed Sidique Khan] to get through and allowed the Manchester Arena attack and the Westminster Bridge attack. It’s still the same people, still the same processes. The processes need to change.”
Image: David Foulkes
Speaking of the last 20 years, Graham says: “We’re lucky enough to have a daughter, and we have the two most wonderful grandchildren as well. But we should have a son, and he should have his family.
“And I shouldn’t be having this conversation with you. I should be at home at this time having dinner or going to the pub with David, and it’s not possible to describe the feeling of having your son murdered in such a pointless way.”
‘The resilience was as inspiring as the attack was ghastly’
“Most of all, my thoughts are with the families of the 52 people who lost their lives and also the more than 700 who were injured, some of them horrifically seriously on that day,” Metropolitan Police Commissioner Sir Mark Rowley says.
He also pays tribute to those who stepped forward on the day, like Paul Dadge, and the emergency services, who he says acted “extraordinarily” to help others.
“They and the families and the victims – what strikes me is how they’re still carrying the effects of that day through to today and for the rest of their lives,” he adds, saying you can still see the “heavy burden” many of them carry 20 years on.
Please use Chrome browser for a more accessible video player
1:30
‘We’re in difficult times’, Met Police chief says
The commissioner, who was a senior officer in Surrey at the time, says he remembers the “slow horror” of watching on as investigating and reporting uncovered what had happened.
“The way everyone stepped forward, the bravery… the resilience was as inspiring as the attack was ghastly.”
He says the attacks have led to “massive changes” in counter-terrorism work to better protect the public.
“The first was the changes that brought policing and our security services, particularly MI5, much more close together so that we now have the closest joint operating arrangements anywhere in the world,” he says.
“And secondly, counter-terrorism work became something that wasn’t just about what was based in London and a network was built with bases in all of the regions across the country.”
He adds the unit now has a reach “far stronger and far more effective at protecting communities than we had before that day”.
Asked about those who may still feel under threat from similar attacks now, he says the public has “extraordinary people working hard day in and day out to protect you” and that policing and security services have strengthened due to experiences like that of the 7/7 bombings.
“The efforts of all those who were involved on that day… that all feeds through to today… [and gives us] one of the strongest and most effective preventative approaches you could possibly have,” he says.
“But sadly we are in difficult times and no system will ever be perfect,” he adds, but concludes by saying communities can “be rest assured about the amazing work that’s going on”.
A four-year-old boy has died after a gravestone fell on him at a cemetery, police have said.
The boy was fatally injured at Rawtenstall Cemetery on Burnley Road, Haslingden, at lunchtime on Saturday, Lancashire Police said.
Paramedics tried to save him but “tragically” the boy died in the “devastating” incident, the force said in a statement.
Officers were called to the cemetery at 1pm “following reports a gravestone had fallen onto a child.
“Tragically, and despite the best efforts of the emergency services, the boy sadly died. Our thoughts are with his loved ones at this devastating time.”
His death was not being treated as suspicious and a file will be sent to the coroner “in due course”.
Rossendale Borough Council posted on X on Saturday evening: “We are deeply saddened by the tragic death of a young child at Rawtenstall Cemetery today. Our thoughts are with the family at this devastating time.
Andy MacNae, Labour MP for Rossendale and Darwen, said on Facebook his thoughts went out to the family and everyone affected by the “tragic incident”.
Local councillor Liz McInnes also wrote on Facebook it was “a terrible tragedy. My heartfelt and deepest sympathies to the family of this poor boy. The whole of Rawtenstall is grieving”.
An Israeli delegation is heading to Qatar for indirect talks with Hamas on a possible hostage and ceasefire deal in Gaza.
The development comes ahead of a meeting between Israeli Prime Minister Benjamin Netanyahu and US President Donald Trump in Washington DC on Monday aimed at pushing forward peace efforts.
The US leader has been increasing pressure on the Israeli government and Hamas to secure a permanent ceasefire and an end to the 21-month-long war in Gaza.
Image: Smoke rises in Gaza following an explosion. Pic: Reuters
And Hamas, which runs the coastal Palestinian territory, said on Friday it has responded to the US-backed proposal in a “positive spirit”.
More on Gaza
Related Topics:
So what is in the plan?
The plan is for an initial 60-day ceasefire that would include a partial release of hostages held by the militant group in exchange for more humanitarian supplies being allowed into Gaza.
The proposed truce calls for talks on ending the war altogether.
The war in Gaza began after Hamas attacked Israel on 7 October 2023, killing 1,200 people and taking 250 others hostage. Dozens of hostages have since been released or rescued by Israeli forces, while 50 remain in captivity, including about 30 who Israel believes are dead.
The proposal would reportedly see about half of the living hostages and about half of the dead hostages returned to Israel over 60 days, in five separate releases.
Eight living hostages would be freed on the first day and two released on the 50th day, according to an Arab diplomat from one of the mediating countries, it is reported.
Five dead hostages would be returned on the seventh day, five more on the 30th day and eight more on the 60th day.
That would leave 22 hostages still held in Gaza, 10 of them believed to be alive. It is not clear whether Israel or Hamas would determine who is to be released.
Hamas has sought guarantees that the initial truce would lead to a total end to the war and the withdrawal of Israeli troops from Gaza.
A Hamas official has said Mr Trump has guaranteed that the ceasefire will extend beyond 60 days if necessary to reach a peace deal, but there is no confirmation from the US of such a guarantee.
Please use Chrome browser for a more accessible video player
1:34
Contractors allege colleagues ‘fired on Palestinians’
Possible challenges ahead
And in a sign of the potential challenges still facing the two sides, a Palestinian official from a militant group allied with Hamas said concerns remained.
The concerns were over humanitarian aid, passage through the Rafah crossing in southern Israel to Egypt and clarity over a timetable for Israeli troop withdrawals.
Hamas’s “positive” response to the proposal had slightly different wording on three issues around humanitarian aid, the status of the Israeli Defense Forces (IDF) inside Gaza and the language around guarantees beyond the 60-day ceasefire, a source with knowledge of the negotiations revealed.
But the source told Sky News: “Things are looking good.”
The Times of Israel reported Hamas has proposed three amendments to the proposed framework.
According to a source, Hamas wants the agreement to say that talks on a permanent ceasefire will continue until an agreement is reached; that aid will fully resume through mechanisms backed by the United Nations and other international aid organisations; and that the IDF withdraws to positions it maintained before the collapse of the previous ceasefire in March.
Mr Netanyahu’s office said in a statement that changes sought by Hamas to the ceasefire proposal were “not acceptable to Israel”.
However, his office said the delegation would still fly to Qatar to “continue efforts to secure the return of our hostages based on the Qatari proposal that Israel agreed to”.
Another potential challenge is that Mr Netanyahu has repeatedly said Hamas must be disarmed, which is a demand the militant group has so far refused to discuss.
Hamas has said it is willing to free all the hostages in exchange for a full withdrawal of Israeli troops and an end to the war in Gaza.
Israel rejects that offer, saying it will agree to end the war if Hamas surrenders, disarms and goes into exile – something that the group refuses.
Previous negotiations have stalled over Hamas demands of guarantees that further negotiations would lead to the war’s end, while Mr Netanyahu has insisted Israel would resume fighting to ensure the group’s destruction.