Long-Read Sequencing Improves Rare Disease Diagnosis

Long-read genome sequencing is emerging as a superior diagnostic tool for rare genetic disorders, outperforming standard short-read methods by identifying complex structural variants and DNA modifications in a single test. According to a study published in the New England Journal of Medicine by researchers at Radboud University Medical Center and Maastricht University Medical Center+, the … Read more

Long-Read DNA Testing: Replacing 15 Rare Disease Tests

Researchers at Radboud University Medical Center have developed a long-read genome sequencing test capable of replacing 15 standard genetic diagnostics with a single analysis. According to a study published in the New England Journal of Medicine, this technology identifies complex mutations and epigenetic modifications that conventional short-read sequencing often misses, potentially accelerating diagnosis for the … Read more