Inside Precision Medicine January 17, 2025
Long-read genetic sequencing has been able to reveal the root cause of several rare diseases that have been impossible to find using short-read technology, researchers report.
The findings demonstrate the clinical value of long-read sequencing, which is becoming increasingly feasible with improving technology and falling prices.
Researchers at the Radboud University Medical Center used PacBio’s Revio platform and HiFi long reads which was recently presented at the J.P. Morgan Healthcare Conference to investigate 100 cases in which the genetic causes of rare diseases were challenging or impossible to identify in previous studies.
The technology allows sections of 20,000 genetic “letters” to be read compared with just a few hundred possible with short reads.
It was able to identify 93% of...
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