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Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses


//science-technology.news-articles.net/content/2 .. ing-time-and-cost-of-rare-disease-diagnoses.html
Published in Science and Technology on Friday, January 24th 2025 at 11:22 GMT by MSN   Print publication without navigation

  • 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 revolutionizing the diagnosis of rare genetic diseases by providing more comprehensive genetic information at a reduced cost and time. Long-read sequencing allows for the analysis of larger segments of DNA, which can capture complex genetic variations that short-read sequencing might miss, such as large structural variants, repetitive regions, and complex genomic rearrangements. This advancement has led to quicker and more accurate diagnoses for patients with rare diseases, where traditional methods often failed due to the limitations in detecting these complex genetic anomalies. The technology not only enhances the understanding of the genetic basis of these conditions but also significantly cuts down the diagnostic odyssey for many families, offering hope for better management and potential treatments.

Read the Full MSN Article at:
[ https://www.msn.com/en-us/science/genetics/long-read-sequencing-reveals-more-genetic-information-while-cutting-time-and-cost-of-rare-disease-diagnoses/ar-AA1xO15w ]

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