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Rare gene variant believed to play a role in understanding why people are left-hand dominant

FOX News

Fox News Flash top headlines are here. Check out what's clicking on Foxnews.com. What do Lady Gaga, Barack Obama, Bill Gates, Paul McCartney and Justin Bieber have in common with Ronald Reagan, Jimi Hendrix, Judy Garland, Fidel Castro and David Bowie? They are all left-handed, a trait shared by roughly 10% of people. But why are some people left-handed while most are righties?


Unsupervised language models for disease variant prediction

Zhou, Allan, Landolfi, Nicholas C., O'Neill, Daniel C.

arXiv.org Artificial Intelligence

There is considerable interest in predicting the pathogenicity of protein variants in human genes. Due to the sparsity of high quality labels, recent approaches turn to \textit{unsupervised} learning, using Multiple Sequence Alignments (MSAs) to train generative models of natural sequence variation within each gene. These generative models then predict variant likelihood as a proxy to evolutionary fitness. In this work we instead combine this evolutionary principle with pretrained protein language models (LMs), which have already shown promising results in predicting protein structure and function. Instead of training separate models per-gene, we find that a single protein LM trained on broad sequence datasets can score pathogenicity for any gene variant zero-shot, without MSAs or finetuning. We call this unsupervised approach \textbf{VELM} (Variant Effect via Language Models), and show that it achieves scoring performance comparable to the state of the art when evaluated on clinically labeled variants of disease-related genes.


Anonymised genomes cannot be linked to faces as previously claimed

New Scientist

What your face looks like is determined almost entirely by the DNA you inherit. This has led to the claim that the millions of anonymised genomes shared for medical research could be linked to specific individuals via photos shared on social media – but the risk is very low, according to Rajagopal Venkatesaramani at Washington University in St Louis, Missouri, and his colleagues. The researchers studied the genomic data and online photos of 126 individuals, then tried to match faces to genomes. They worked backwards from the faces, using AI to analyse the photos and predict gene variants, then looking for genomes with those predicted variants. Given a subset of just 10 individuals, the team was able to identify a quarter of them.


DNA variants that are bad for health may also make you stupid

New Scientist

What makes some people smarter than others? A genetic analysis of families in Scotland, UK, hints that brainer people have fewer DNA mutations that impair intelligence and general health, rather than having more genetic variants that make them smarter. "This is one of the most exciting studies on the genetics of intelligence I've seen for a while," says Steve Stewart-Williams of the University of Nottingham Malaysia Campus, who was not involved in the work. One implication is that using gene editing to fix the hundreds of mutations that slightly damage people's health would make them smarter as well as healthier. "I think this strengthens the moral case for pursuing genome editing technologies," says ethicist Christopher Gyngell of the University of Oxford.


'Smart genes' account for 20% of intelligence: study

The Japan Times

PARIS – Scientists on Monday announced the discovery of 52 genes linked to human intelligence, 40 of which have been identified as such for the first time. The findings also turned up a surprising connection between intelligence and autism that could one day help shed light on the condition's origins. Taken together, the new batch of "smart genes" accounted for 20 percent of the discrepancies in IQ test results among tens of thousands of people examined, the researchers reported in the journal Nature Genetics says. "For the first time, we were able to detect a substantial amount of genetic effects in IQ," said Danielle Posthuma, a researcher at the Center for Neurogenomics and Cognitive Research in Amsterdam, and the main architect of the study. "Our findings provide insight into the biological underpinnings of intelligence," she said. Most of the newly discovered gene variants linked to elevated IQ play a role in regulating cell development in the brain, especially neuron differentiation and the formation of neural information gateways called synapses.


Yale University says genes are linked to high achievement

Daily Mail - Science & tech

The same genes that cause higher intellectual achievement may trigger autism, a study suggests. A study of more than 5,000 people found that genes linked with exceptional brain power were also associated with the disorder. The Yale University authors said that the findings may explain why autism has not been eliminated by natural selection. Genes that have a negative effect on reproductive success normally die out. The researchers said that a variety of genes known to have effects including boosting brain growth were beneficial in most cases, and that is why they continue to be passed on. But the downside is that the same genes increase the chances of autism.


Can Your Genes Make You Kill?

Popular Science

It was a fall night in 2006, when Bradley Waldroup walked out of his rural trailer in southeastern Tennessee, carrying his .22 His estranged wife and her friend, Leslie Bradshaw, had just pulled up to drop off the Waldroups' four children. Waldroup began arguing with his wife and Bradshaw, who was unloading the car. He used a knife to cut her head open. He then chased his wife with the knife and a machete, managing to slice off one of her pinkies before dragging her into the trailer. There, he told their frightened children, "Come tell your mama goodbye," because it was the last time they'd ever see her. Miraculously, his wife managed to slip his grasp and escape.


Matchmaking Algorithms Are Unraveling the Causes of Rare Genetic Diseases - Facts So Romantic

Nautilus

Jill Viles, an Iowa mother, was born with a rare type of muscular dystrophy. The symptoms weren't really noticeable until preschool, when she began to fall while walking. She saw doctors, but they couldn't diagnose her or supply a remedy. When she left for college, she was 5-foot-3 and weighed just 87 pounds. How she would spend her time there turned into part of a remarkable story by David Epstein, published in ProPublica in January.