A new “pangenome” sequence has been released by scientists in an effort to try to understand more about the differences between people’s genes.
A pangenome combines the genome sequences of many people, making it easier to see genetic diversity in the collection.
The genomes of 47 people have been mapped in the new pangenome sequence, and researchers from the international Human Pangenome Reference Consortium aim to increase this number to 350 by the middle of next year.
Experts hope that the work, which has been published as a collection of papers in the journal Nature, will lead to a “a new age of genetic diagnosis”.
When researchers and clinicians study people’s DNA, their genetic information is compared to a “reference” sequence of genomes.
The human reference genome was first completed 20 years ago.
Despite many revisions to the sequence, the three billion letters of DNA code that make up this reference genome were put together using information from 20 people who lived in the same part of North America. Most of the reference sequence is from only one person.
Experts have said that the reference genome does not reflect the full genetic diversity of humanity, something the new project is trying to solve.
Any two people’s genomes are, on average, more than 99 per cent identical.
But the small differences are what make people different from one another and can provide insights about their health, including how to predict outcomes, diagnose diseases and guide medical treatments.
“Everyone has a unique genome, so using a single reference genome sequence for every person can lead to inequities in genomic analyses,” said Adam Phillippy of the National Human Genome Research Institute in the US and co-author of the main study.
“For example, predicting a genetic disease might not work as well for someone whose genome is more different from the reference genome.”
The new pangenome sequence builds upon the previous reference genome sequence, adding more than 100 million new bases, or “letters” in DNA, academics said.
The previous reference genome is described as “linear”, while the new pangenome represents many different versions of the human genome sequence at the same time and has been likened to a “map of a subway system”.
“Basic researchers and clinicians who use genomics need access to a reference sequence that reflects the remarkable diversity of the human population,” added Eric Green, director of the National Human Genome Research Institute.
“This will help make the reference useful for all people, thereby helping to reduce the chances of propagating health disparities.”
David Adelson of the University of Adelaide in Australia said: “Why is a pangenome so exciting? It includes all the differences between the genomes of the individuals that have been sequenced.
“All you have to do is look around you to see how different people are. These differences reflect differences in our genomes.
“Up until now we have used a single genome sequence as a reference for the detection of genetic changes that cause disease. That reference did not include differences between people or populations.
With the pangenome, he continued, it is now possible to look for genetic changes across many people and ultimately, the pangenome will grow to include information from thousands and perhaps millions of genome sequences.
“This means our ability to use genetic information for diagnosis will increase enormously,” he said.
“With the current pangenome from only 45 humans, the accuracy of detection to find genetic changes has gone up by 34 per cent and the number of large, difficult-to-detect changes we now know about has gone up by over 100 per cent.
“This paper heralds a new age of genetic diagnosis, that will benefit people from all ancestries, unlike our current reference genome that does not reflect all the diversity of humanity.”
Zimbabwe v UAE, ODI series
All matches at the Harare Sports Club
- 1st ODI, Wednesday, April 10
- 2nd ODI, Friday, April 12
- 3rd ODI, Sunday, April 14
- 4th ODI, Sunday, April 16
Squads:
- UAE: Mohammed Naveed (captain), Rohan Mustafa, Ashfaq Ahmed, Shaiman Anwar, Mohammed Usman, CP Rizwan, Chirag Suri, Mohammed Boota, Ghulam Shabber, Sultan Ahmed, Imran Haider, Amir Hayat, Zahoor Khan, Qadeer Ahmed
- Zimbabwe: Peter Moor (captain), Solomon Mire, Brian Chari, Regis Chakabva, Sean Williams, Timycen Maruma, Sikandar Raza, Donald Tiripano, Kyle Jarvis, Tendai Chatara, Chris Mpofu, Craig Ervine, Brandon Mavuta, Ainsley Ndlovu, Tony Munyonga, Elton Chigumbura
COMPANY PROFILE
Name: Lamsa
Founder: Badr Ward
Launched: 2014
Employees: 60
Based: Abu Dhabi
Sector: EdTech
Funding to date: $15 million
Jetour T1 specs
Engine: 2-litre turbocharged
Power: 254hp
Torque: 390Nm
Price: From Dh126,000
Available: Now
COMPANY%20PROFILE
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Opening Rugby Championship fixtures: Games can be watched on OSN Sports
Saturday: Australia v New Zealand, Sydney, 1pm (UAE)
Sunday: South Africa v Argentina, Port Elizabeth, 11pm (UAE)
About Karol Nawrocki
• Supports military aid for Ukraine, unlike other eurosceptic leaders, but he will oppose its membership in western alliances.
• A nationalist, his campaign slogan was Poland First. "Let's help others, but let's take care of our own citizens first," he said on social media in April.
• Cultivates tough-guy image, posting videos of himself at shooting ranges and in boxing rings.
• Met Donald Trump at the White House and received his backing.
SPEC%20SHEET%3A%20APPLE%20M3%20MACBOOK%20AIR%20(13%22)
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The burning issue
The internal combustion engine is facing a watershed moment – major manufacturer Volvo is to stop producing petroleum-powered vehicles by 2021 and countries in Europe, including the UK, have vowed to ban their sale before 2040. The National takes a look at the story of one of the most successful technologies of the last 100 years and how it has impacted life in the UAE.
Read part four: an affection for classic cars lives on
Read part three: the age of the electric vehicle begins
Read part one: how cars came to the UAE
UAE currency: the story behind the money in your pockets
COMPANY PROFILE
Name: Kumulus Water
Started: 2021
Founders: Iheb Triki and Mohamed Ali Abid
Based: Tunisia
Sector: Water technology
Number of staff: 22
Investment raised: $4 million
More from Rashmee Roshan Lall
End of free parking
- paid-for parking will be rolled across Abu Dhabi island on August 18
- drivers will have three working weeks leeway before fines are issued
- areas that are currently free to park - around Sheikh Zayed Bridge, Maqta Bridge, Mussaffah Bridge and the Corniche - will now require a ticket
- villa residents will need a permit to park outside their home. One vehicle is Dh800 and a second is Dh1,200.
- The penalty for failing to pay for a ticket after 10 minutes will be Dh200
- Parking on a patch of sand will incur a fine of Dh300
Gulf Men's League final
Dubai Hurricanes 24-12 Abu Dhabi Harlequins
THE BIO
Bio Box
Role Model: Sheikh Zayed, God bless his soul
Favorite book: Zayed Biography of the leader
Favorite quote: To be or not to be, that is the question, from William Shakespeare's Hamlet
Favorite food: seafood
Favorite place to travel: Lebanon
Favorite movie: Braveheart
MATCH INFO
Schalke 0
Werder Bremen 1 (Bittencourt 32')
Man of the match Leonardo Bittencourt (Werder Bremen)
The Lowdown
Us
Director: Jordan Peele
Starring: Lupita Nyong'o, Winston Duke, Shahadi Wright Joseqph, Evan Alex and Elisabeth Moss
Rating: 4/5
UPI facts
More than 2.2 million Indian tourists arrived in UAE in 2023
More than 3.5 million Indians reside in UAE
Indian tourists can make purchases in UAE using rupee accounts in India through QR-code-based UPI real-time payment systems
Indian residents in UAE can use their non-resident NRO and NRE accounts held in Indian banks linked to a UAE mobile number for UPI transactions
more from Janine di Giovanni
Our family matters legal consultant
Name: Hassan Mohsen Elhais
Position: legal consultant with Al Rowaad Advocates and Legal Consultants.
The specs
- Engine: 3.9-litre twin-turbo V8
- Power: 640hp
- Torque: 760nm
- On sale: 2026
- Price: Not announced yet
Silent Hill f
Publisher: Konami
Platforms: PlayStation 5, Xbox Series X/S, PC
Rating: 4.5/5
EMERGENCY PHONE NUMBERS
Estijaba – 8001717 – number to call to request coronavirus testing
Ministry of Health and Prevention – 80011111
Dubai Health Authority – 800342 – The number to book a free video or voice consultation with a doctor or connect to a local health centre
Emirates airline – 600555555
Etihad Airways – 600555666
Ambulance – 998
Knowledge and Human Development Authority – 8005432 ext. 4 for Covid-19 queries
Lexus LX700h specs
Engine: 3.4-litre twin-turbo V6 plus supplementary electric motor
Power: 464hp at 5,200rpm
Torque: 790Nm from 2,000-3,600rpm
Transmission: 10-speed auto
Fuel consumption: 11.7L/100km
On sale: Now
Price: From Dh590,000
