Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis. Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS ...

“Short-read sequencing struggles with certain kinds of sequence variants, so to better capture these, we also used long-read sequencing that reads between 5,000 and 30,000 base pairs at a time ...

In collaboration with the University of Washington and the Undiagnosed Diseases Network (UDN), the study applied PacBio’s state-of-the-art Revio™ sequencing system to integrate long-read genomic, ...