Google AI breakthrough represents huge step in finding genes that cause diseases, scientists say
Google says it has made a significant step in identifying disease-causing genes, which could help spot rare genetic disorders. A new model named AlphaMissense is able to confidently classify 89 per cent of all possible “missense” variants in genes, identifying whether they are likely to cause diseases or benign. That compares with just 0.1 per cent of all missense variants that have been confidently classified by human experts. Missense variants happen when a single letter is substituted in the DNA, which in turn leads to proteins with a different amino acid. That small change can have significant effects – Google likened it to the way that changing a letter in one word can change the meaning of the whole sentence. Most of those variants are benign: the average person has more than 9,000 of them. But some of them can be disastrous, leading to rare genetic diseases. The new AlphaMissense looked at existing information about missense variants, and how commonly they are seen in humans and closely-related primates. It looked for those that were rarely seen, classifying them as pathogenic, and from that was able to use that information to analyse other protein sequences – giving not just a verdict on whether they were likely to cause problems, but also how confident it was. Experiments, conducted by humans, which look to find those mutations are expensive and slow: they require people to examine each unique protein and designed separately. Google says that the new system means that researchers can “preview” those results for thousands of proteins at a time, helping them decide where to focus. The company has used its systems to release a vast catalogue of “missense” mutations, so that researchers can learn about what effect they have. In some cases, those variations can lead to conditions such as cystic fibrosis, sickle-cell anaemia, or cancer, and understanding them could be key to researchers studying ways to treat or prevent those diseases. It is just the latest health breakthrough from Google’s Deepmind division, which is looking to use artificial intelligence to both identify and treat a variety of conditions. The new system was built on AlphaFold, the breakthrough model that helped unfold proteins, the building blocks of life. The research is described in a new paper, ‘Accurate proteome-wide missense variant effect prediction with AlphaMissense’, published in the journal Science. The catalogue is being made “freely available to the research community”, Google said, and the company will release the code behind the AI system. Read More BBC removes some Russell Brand content as monetisation suspended on YouTube Google Bard can now link to Gmail and other apps to help with responses Long-form video content is here to stay, says YouTube UK boss
2023-09-20 00:25
Nevada Senate adjourns without voting on proposed A's stadium in Las Vegas
An anticipated vote has failed to materialize in the Nevada Senate on a financing bill for a proposed $1.5 billion Las Vegas Strip stadium for the Oakland Athletics
2023-06-09 08:29
Large-scale rescue operation recovers 7 bodies after flooding traps cars in South Korea tunnel
Rescue workers pulled seven bodies from vehicles trapped in a flooded underpass in central South Korea, authorities said Sunday, after days of torrential rain caused landslides and flash floods that have killed at least 33 people.
2023-07-16 12:16
Rep. Alexandria Ocasio-Cortez supports Biden's reelection bid
Democratic Rep. Alexandria Ocasio-Cortez said Thursday that she will support President Joe Biden's reelection bid given the challengers he currently faces in the primary.
2023-07-08 05:53
Who is King Princess? Pop singer whose great grandparents died onboard Titanic is slammed for mocking Titan submersible victims
Isodor and Ida Straus, great grandparents of Mikaela Mullaney Straus, known as King Princess, were among 1,500 passengers who died when Titanic sank
2023-06-24 05:28
Spurs draft Wembanyama and now look for French phenom to help end NBA playoff drought
The San Antonio Spurs are looking to end their four-year playoff drought with the addition of Victor Wembanyama
2023-06-23 08:28
How did FBI catch Craig Robertson? Utah man, 75, killed in police raid made multiple threats on Donald Trump's Truth Social
The Air Force veteran who used to call himself a 'MAGA Trumper' hinted towards taking the life of Manhattan District Attorney Alvin Bragg Jr
2023-08-12 14:47
BBC pundit slams Women’s World Cup pitches after Keira Walsh injury – ‘It’s not good enough’
The state of the pitches at the Women’s World Cup have been heavily criticised after England star Keira Walsh suffered what appeared to be a serious knee injury during the Lionesses’ game against Denmark. Midfielder Walsh got her boot stuck in the turf during the first half at Allianz Stadium in Sydney and twisted her knee as she fell to the ground. The 26-year-old looked to be in serious pain and was eventually stretchered off, replaced by Laura Coombs. The incident comes amid growing concern about the number of ACL tears in women’s football with the likes of England captain Leah Williamson, winger Beth Mead, Netherlands superstar Vivianne Miedema, Canada forward Janine Beckie and USA’s rising Cat Macario just some of those missing the tournament with that specific injury. Speaking on the BBC at half-time of England vs Denmark, pundit Jonas Eidevall – who is head coach at Arsenal – slammed the state of the pitches as “not good enough” and believes the turf needs to be watered to improve player welfare. “I think it looks very dry,” said Eidevall. “You could see on the movement that when she [Walsh] tries to slide with her right foot, it stops and then twists her knee. “I think another example of that was the celebration for the first goal. Lauren James tries to knee slide but when she does that on the pitch, she just stops and falls over. “It looks funny but it's a danger to player welfare to have such a dry pitch. It should allow you to slide through. It's not good enough. “I'm a big advocate of watering the pitches, it makes the passes go faster but it also prevents situations like this. It’s these stopping mechanisms that a lot of the time cause these serious injuries.” England led 1-0 when Walsh’s injury occurred and if she is ruled out for the remainder of the World Cup, that would be a huge blow to the Lionesses’ chances of lifting the title. The Barcelona midfielder is the beating heart of England’s midfield and speaking as a pundit for the BBC, ex-Lioness Ellen White commiserated with her former teammate. "I'm devastated for her to be honest,” said White. “She's been one of the best if not the best player for England. She knew it didn't look good. She'll be a big miss. I'm devastated for her." Walsh had expressed her concern about the number of injuries being suffered in an interview earlier this month and urged greater resource to be poured into the game. “I think there is a massive worry,” Walsh said at the time. “Look at the resources the men have as well, I don’t think that’s available to us and we are being asked to play close to what they play in a season now without the kind of resources behind it. “The medical teams, they work so hard but it’s impossible to keep everybody fresh all the time and we’re playing so many games and I think – with the introduction of the Nations League as well – it’s going to be difficult and you see how many ACL injuries there have been and how many players are getting injured. “I would be lying if I say it’s not a worry for me every time I go on the pitch that I’m going to get injured next.” Read More England vs Denmark LIVE: Women’s World Cup latest score after Lauren James goal and Keira Walsh injury England sweat on Keira Walsh fitness amid avalanche of ACL injuries impacting Women’s World Cup Keira Walsh fears injury ‘every time I go on the pitch’ due to increased load England sweat on Keira Walsh fitness after ACL injuries impact World Cup Laura Coombs: England’s unlikely midfield general in profile Keira Walsh not focused on personal treble as England chase World Cup glory
2023-07-28 18:22
Eritrean Girmay to lead Tour de France team
Rising star Biniam Girmay will lead the Belgian cycling team Intermarche-Wanty at the Tour de France targeting stage wins and...
2023-06-23 20:17
Andrew Tate alleges bomb fell near orphanage where he was providing aid, Internet says 'that’s so scary'
Tate earlier announced that his organization, Tate Pledge, and The War Room had personnel in Palestine, distributing food supplies to children
2023-10-15 19:45
Dustin's duty: Fans dub Taylor Swift's security guard 'angel' for helping Rio crowd amid heatwave and water crisis in stadium
Taylor Swift's security guard, Dustin Watts, earns praise for distributing water during the Rio concert
2023-11-19 19:17
Aaron Judge clubs 464-foot homer to lead the Yankees to a 9-4 win over Marlins
MIAMI (AP) — Aaron Judge hit a 464-foot home run, rookie Anthony Volpe hit a three-run drive and the New York Yankees beat the Miami Marlins 9-4 Friday night.
2023-08-12 10:53
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