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NEW YORK DAWN™ > Blog > Health > Lengthy-read genome sequencing: Remodeling genetic diagnostics for uncommon illnesses
Lengthy-read genome sequencing: Remodeling genetic diagnostics for uncommon illnesses
Health

Lengthy-read genome sequencing: Remodeling genetic diagnostics for uncommon illnesses

Last updated: May 7, 2025 5:08 pm
Editorial Board Published May 7, 2025
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Evaluation of assorted genetic variants. Credit score: Nature Genetics (2025). DOI: 10.1038/s41588-025-02160-y

Regardless of fast advances in genome and exome sequencing, many people with uncommon illnesses stay undiagnosed. In a Perspective article printed in Nature Genetics, researchers at Karolinska Institutet spotlight how long-read complete genome sequencing, LR-WGS, presents a paradigm shift in genetic testing.

Permitting for the detection of beforehand unrevealed genetic variants, corresponding to advanced structural rearrangements, repetitive sequences, in addition to epigenetic alterations, providing a extra full image of the genome.

“With long-read sequencing, we can now access parts of the genome that were previously invisible—complex variants and structural changes that we know play a crucial role in rare diseases,” says lead writer Jesper Eisfeldt, from the Division of Molecular Drugs and Surgical procedure.

The article describes the Swedish nationwide efforts to convey LR-WGS into scientific follow. Lots of of people have already been analyzed by way of the Genomic Drugs Sweden initiative, and a potential research of 1,000 people with neurological circumstances is underway. LR-WGS has proven promise in rising diagnostic yields and will ultimately exchange a number of normal genetic assessments with a single, complete assay.

“We envision a future where long-read sequencing replaces the full spectrum of genetic tests currently used in clinical diagnostics today,” says corresponding writer, Professor Anna Lindstrand.

Extra info:
Jesper Eisfeldt et al, Towards scientific long-read genome sequencing for uncommon illnesses, Nature Genetics (2025). DOI: 10.1038/s41588-025-02160-y

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Karolinska Institutet

Quotation:
Lengthy-read genome sequencing: Remodeling genetic diagnostics for uncommon illnesses (2025, Might 7)
retrieved 7 Might 2025
from https://medicalxpress.com/information/2025-05-genome-sequencing-genetic-diagnostics-rare.html

This doc is topic to copyright. Other than any truthful dealing for the aim of personal research or analysis, no
half could also be reproduced with out the written permission. The content material is offered for info functions solely.

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TAGGED:diagnosticsdiseasesgeneticgenomeLongreadraresequencingtransforming
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