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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Lengthy-read genome sequencing: Remodeling genetic diagnostics for uncommon illnesses (2025, Might 7)
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