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Google AI breakthrough represents huge step in finding genes that cause diseases, scientists say
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 00:05
Ed Sheeran, Lana Del Rey and more celebs are popping up in surprising spaces. What gives?
Ed Sheeran, Lana Del Rey and more celebs are popping up in surprising spaces. What gives?
Could you imagine living your life under the constant scrutiny of the public?
2023-07-29 20:50
GMA's Michael Strahan spends quality time with daughter Isabella at a football game amid busy schedule
GMA's Michael Strahan spends quality time with daughter Isabella at a football game amid busy schedule
Michael Strahan was spotted at a football game with his daughter Isabella who just started college in LA
2023-09-15 11:56
No. 12 Alabama's defense holding its own while offense struggles. Mississippi State the next foe
No. 12 Alabama's defense holding its own while offense struggles. Mississippi State the next foe
Alabama's defense is playing well these days
2023-09-30 00:26
Get two 3-in-1 Apple device chargers for just $25
Get two 3-in-1 Apple device chargers for just $25
TL;DR: As of October 9, get this 3-in-1 Apple Watch, AirPods & iPhone Charging Cable
2023-10-09 17:00
Google Podcasts to Be Discontinued as Attention Shifts to YouTube Music
Google Podcasts to Be Discontinued as Attention Shifts to YouTube Music
If you use Google Podcasts, prepare to say goodbye. Google plans on shutting down the
2023-09-27 03:42
California's green drive leaves its oil towns behind
California's green drive leaves its oil towns behind
Fred Holmes watches with satisfaction as pumps pull oil from deep under his California farm, tapping a supply he thinks...
2023-10-01 11:28
Megan Rapinoe: The legendary US attacker and LGBT+ rights activist adjusting to new role in squad
Megan Rapinoe: The legendary US attacker and LGBT+ rights activist adjusting to new role in squad
Megan Rapinoe, 38, burst onto the global stage at the 2011 World Cup in Germany when she scored a screamer against Colombia and celebrated by grabbing an on-field microphone placed near the corner flag and crooning Bruce Springsteen’s “Born in the USA”. A star was born. Since then, the iconic 5’6” neon-haired winger has won gold at the London 2012 Olympics, bronze at the Tokyo 2020 games and both the 2015 and 2019 FIFA World Cups as an integral part of the US Women’s National Team (USWNT). She was named player of the tournament at her last World Cup in France four years ago after scoring six – including a spotkick in the final against the Netherlands – and picked up both the Golden Boot and that year’s Ballon d’Or Feminin. Rapinoe also caused a major political stir back home when she was caught on tape declaring “I’m not going to the f***ing White House” in the event that her side secured the trophy, expressing her disdain for the divisive policies of then-president Donald Trump and advising her teammates to “think hard” before accepting any honours from his administration. She has since continued to use her celebrity to campaign for LGBT+ rights causes and for equal pay for women, speaking on that issue at 1600 Pennsylvania at the invitation of Trump’s successor, Joe Biden. As a player, this summer’s World Cup in Australia and New Zealand marks Megan Rapinoe’s last hurrah as she has announced her retirement at the end of the coming season. She arrives in the southern hemisphere having made 199 appearances for the USWNT, scoring 63. Rapinoe was born in Redding, California, on 5 July 1985, one of five children including a twin sister, Rachael, who was also a professional footballer. Her brother Brian first turned his sisters on to the sport and Megan has since spoken movingly about his subsequent battle with drugs and struggle to stay out of prison. As a teenager in high school, Rapinoe played for Elk Grove Pride in Sacramento before enrolling at the University of Portland in Oregon, where she proved herself a prolific goalscorer for the Portland Pilots. Turning professional thereafter, her club career has taken her from the Chicago Red Stars and Philadelphia Independence to the short-lived MagicJack team in Boca Raton, Florida, to Sydney FC in Australia, the Seattle Sounders and to Olympique Lyonnais in France. Get all the latest Women’s World Cup odds here Since 2013, she has played for OL Reign in Tacoma, Washington, favouring the US Pacific Northwest region as her partner Sue Bird, retired basketball superstar, plied her trade nearby for Seattle Storm. Read More FIFA Women’s World Cup fixtures and full schedule Women’s football world rankings: Who could take No 1 at the World Cup? Women’s World Cup TV schedule: How to watch every match today
2023-08-01 14:49
Want to tune in for the third GOP presidential debate? Here’s how to watch
Want to tune in for the third GOP presidential debate? Here’s how to watch
It’s time for the third Republican presidential debate
2023-11-08 13:23
New Mexico Supreme Court upholds Democratic-drawn congressional map
New Mexico Supreme Court upholds Democratic-drawn congressional map
The New Mexico Supreme Court has upheld a Democratic-drawn congressional map that divvied up a conservative, oil-producing region and reshaped a swing district along the U.S. border with Mexico
2023-11-28 05:49
Recall Alert: These Trader Joe’s Cookies May Contain Rocks
Recall Alert: These Trader Joe’s Cookies May Contain Rocks
Here’s how to know whether to toss your Trader Joe’s cookies.
2023-07-26 00:15
Trabzonspor hoping to beat Besiktas to Nicolas Pepe signing
Trabzonspor hoping to beat Besiktas to Nicolas Pepe signing
Turkish Super Lig clubs Besiktas and Trabzonspor are competing to sign Arsenal winger Nicolas Pepe. Both sides have had £2.6m bids accepted.
2023-09-07 22:45