Long-read sequencing revolutionizes diagnosis of rare diseases

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Wed, January 29, 2025

[ Wed, Jan 29th ] - MSN

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[ Wed, Jan 29th ] - Yahoo

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[ Wed, Jan 29th ] - LBC

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[ Wed, Jan 29th ] - ABC

2025 'Doomsday Clock': This is how close we are to self-annihilation, scientists say

Tue, January 28, 2025

[ Tue, Jan 28th ] - Yahoo

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[ Tue, Jan 28th ] - komonews

DeepSeek sends Washington, Wall Street and Silicon Valley into frenzy

[ Tue, Jan 28th ] - CNET

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[ Tue, Jan 28th ] - Yahoo

Bemidji State to launch reimagined computer science program in fall 2025

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[ Tue, Jan 28th ] - Forbes

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[ Tue, Jan 28th ] - VentureBeat

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Mon, January 27, 2025

[ Mon, Jan 27th ] - NextBigFuture

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[ Mon, Jan 27th ] - wwmt

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[ Mon, Jan 27th ] - Forbes

The Women Who Redefined Tech For Good In 2024

[ Mon, Jan 27th ] - MSN

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[ Mon, Jan 27th ] - Reuters

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Sun, January 26, 2025

[ Sun, Jan 26th ] - Forbes

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Sat, January 25, 2025

[ Sat, Jan 25th ] - NextBigFuture

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[ Sat, Jan 25th ] - Yle

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[ Sat, Jan 25th ] - MSN

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[ Sat, Jan 25th ] - Forbes

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[ Sat, Jan 25th ] - MSN

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[ Sat, Jan 25th ] - NDTV

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[ Sat, Jan 25th ] - MSN

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Fri, January 24, 2025

[ Fri, Jan 24th ] - KLTV

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[ Fri, Jan 24th ] - ITV

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[ Fri, Jan 24th ] - Forbes

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[ Fri, Jan 24th ] - CNET

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[ Fri, Jan 24th ] - YourTango

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[ Fri, Jan 24th ] - EKU

Eastern Kentucky University College of Science, T .. Mathematics Congratulates Our Fall 2024 Graduates

[ Fri, Jan 24th ] - MSN

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

[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - SHINE

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[ Fri, Jan 24th ] - Newsroom

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[ Fri, Jan 24th ] - Forbes

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[ Fri, Jan 24th ] - Townhall

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[ Fri, Jan 24th ] - Techopedia

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[ Fri, Jan 24th ] - MSN

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[ Fri, Jan 24th ] - Vanguard

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[ Fri, Jan 24th ] - Newsweek

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Thu, January 23, 2025

[ Thu, Jan 23rd ] - Forbes

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[ Thu, Jan 23rd ] - Yahoo

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[ Thu, Jan 23rd ] - Vanguard

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[ Thu, Jan 23rd ] - Indiatimes

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Wed, January 22, 2025

[ Wed, Jan 22nd ] - rnz

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[ Wed, Jan 22nd ] - breakingbelizenews

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[ Wed, Jan 22nd ] - MSN

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[ Wed, Jan 22nd ] - earth

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[ Wed, Jan 22nd ] - CNET

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Long-read sequencing revolutionizes diagnosis of rare diseases

_{//science-technology.news-articles.net/content/2 .. g-revolutionizes-diagnosis-of-rare-diseases.html}
^{Published in Science and Technology on Friday, January 24th 2025 at 21:22 GMT by 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 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 ]

Publication Contributing Sources

MSN

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Long-read sequencing revolutionizes diagnosis of rare diseases