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Long-read genome sequencing uncovers new autism gene variants

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Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an emerging approach that reads large sections of the genome at once, making it easier for scientists to find new genetic variants and understand how genetic variants affect the function of a gene. The team found that compared to traditional short-read approaches, LR-WGS enhanced the discovery of several categories of genetic variants. The findings may pave the way for more accurate genetic tests and could enable new therapies targeting specific genetic mechanisms underlying ASD.


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