People First
PacBio technology enables geneticists to uncover deeper insights in rare disease research that impacts lives globally, highlighting the advantage HiFi long-read sequencing has over other methods. Read these inspiring stories of hope and discovery.
Innovations abound at Iso-Seq Social Club 3
In this article, we discuss PacBio RNA sequencing through the lens of our most recent Iso-Seq Social club event. Read about the exciting scientific wins that were shared, and see…
An interview with Care4Rare – how HiFi sequencing is being used to improve our understanding of rare disease
Over one million Canadians are impacted by rare genetic diseases, and over a third of these remain unsolved. For some families, this has led to decades-long diagnostic odysseys to find…
ESHG 2021: How HiFi Sequencing is Closing the Gaps in Rare Disease Research
It’s a challenge that has haunted rare disease researchers for years: how to increase solve rates in rare and Mendelian disease. Currently, the genetic cause of more than half of…
SMRT Grant Winners: When Accuracy Matters Scientists Choose HiFi Sequencing
At PacBio, we are passionate about accuracy in sequencing data. Our commitment to ensuring reliable results is why our HiFi reads are better than 99.9% accurate. Combined with the…
SMRT Sequencing Detects Clinically Significant Repeat Changes In Triplet Expansion Disorders
When size matters and you need to be able to detect both single nucleotide changes as well as large repeated sequences, SMRT Sequencing on the Sequel II System is the…
Using the Power of Genomics to Find Answers for Rare Disease Patients and Families
Sunday is Rare Disease Day – a time to honor the patients, families, caregivers, and healthcare professionals who are part of the rare disease community. At PacBio, we are passionate…
Pediatric Partnership Powered by PacBio Aims to Solve Difficult Rare Disease Cases
Kids have lots of questions. But even the world’s top scientists don’t have all the answers — especially when it comes to rare genetic disorders afflicting children. Our HiFi reads,…
Webinar: Increasing Solve Rates for Rare and Mendelian Diseases with Long-Read Sequencing
It’s well known that finding the genetic cause of rare diseases can be complex — that’s why so many remain unsolved. But researchers are beginning to get a grasp on…
The Pathologist: Solving Rare Disease with SMRT Sequencing
The strides scientists have made in rare disease research lately is truly impressive. For an overview of recent progress, we encourage you to check out a new article in The…