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

Science and Technology Science and Technology

Fri, January 24, 2025

[ Fri, Jan 24th ] - MSN

Carvana's SWOT analysis: online used car retailer's stock rides growth wave

[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MassLive

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[ Fri, Jan 24th ] - Reuters

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - Yahoo

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MSN

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The Latest: Trump proposes 'getting rid of FEMA' as he visits North Carolina and California

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[ Fri, Jan 24th ] - MSN

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Short squeeze is starting in shares of TURN at $3 .. 05, after crossing above the $3.801 Trigger Price

[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - WOPRAI

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - Outlookindia

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - CNN

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[ Fri, Jan 24th ] - Time

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - Forbes

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[ Fri, Jan 24th ] - AOL

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[ Fri, Jan 24th ] - WOPRAI

Short squeeze is starting in shares of CLI at $15 .. 3, after crossing above the $15.729 Trigger Price

[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - WOPRAI

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[ Fri, Jan 24th ] - WOPRAI

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[ Fri, Jan 24th ] - MSN

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Long read sequencing reveals more genetic informa .. e cutting time and cost of rare disease diagnoses

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

^{Published on 2025-01-24 11:22:24 - MSN}

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 ]

N@N

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