Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis ... “Rare diseases are something that people have been struggling to diagnose for so many years, and if we have a ...

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

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

The study demonstrates the impact of PacBio’s HiFi long-read sequencing technology in identifying ... of potentially replacing multiple diagnostic tests with a single, more comprehensive approach.

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

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...

Rare Disease Diagnostics Take a Major Step Forward ... quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address ...

HiFi sequencing results from these samples ... adoption as the preferred method for rare disease diagnostics. The study, HiFi long-read genomes for difficult-to-detect, clinically relevant ...

The study demonstrates the impact of PacBio’s HiFi long-read sequencing technology in identifying genetic causes of rare diseases, illustrating the feasibility of potentially replacing multiple ...

PacBio announced a key study published in the American Journal of Human Genetics by Radboud University Medical Center, showcasing the effectiveness of its HiFi long-read sequencing technology for ...