Medical Xpress May 7, 2025
Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska Institutet highlight how long-read whole genome sequencing, LR-WGS, offers a paradigm shift in genetic testing.
Allowing for the detection of previously unrevealed genetic variants, such as complex structural rearrangements, repetitive sequences, as well as epigenetic alterations, offering a more complete picture 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,”...
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