Long-read genome sequencing: Transforming genetic diagnostics for rare diseases

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.

This article was originally published on MedicalXpress.com

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