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.

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

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 ...

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 ...

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.

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 ...