“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 ...

UC Santa Cruz researchers showcase how long-read sequencing can diagnose rare genetic diseases in days instead of years.

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...

Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.

allow for the sequencing of long, continuous DNA fragments in real-time. These methods overcome some of the limitations of short-read sequencing, such as the difficulty in assembling complex genomes ...

Primarily, next-generation sequencing technologies operate through step-wise cycles of polymerase-based extension or oligonucleotide ligation that rely on piecing together short reads from fragmented ...