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Long-read sequencing revolutionizes diagnosis of rare diseases

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          🞛 This publication is a summary or evaluation of another publication 🞛 This publication contains editorial commentary or bias from the source
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have access to testing,
The article from MSN discusses how long-read sequencing technology is transforming the diagnosis of rare diseases. This advanced genetic sequencing method allows for the analysis of much longer DNA fragments compared to traditional short-read sequencing, providing a more comprehensive view of the genome. This capability is crucial for identifying complex genetic variations, such as large structural variants, repetitive regions, and methylation patterns, which are often missed by older technologies. Long-read sequencing has been particularly beneficial in diagnosing conditions like Duchenne muscular dystrophy, where it has helped in pinpointing the exact genetic mutations responsible for the disease. The technology not only speeds up the diagnostic process but also reduces the diagnostic odyssey for patients with rare genetic disorders, offering hope for more personalized treatment options and potentially improving patient outcomes.

Read the Full MSN Article at:
[ https://www.msn.com/en-gb/science/genetics/long-read-sequencing-revolutionizes-diagnosis-of-rare-diseases/ar-AA1xPorO ]