This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Get more from your HiFi reads with HiFiCNV, a powerful new software tool for capturing large copy number variants throughout the genome. Why CNVs and HiFi reads are important Copy…
Countries around the world have recognized the value of precision health and population genomics research initiatives. They have launched efforts to sequence thousands to millions of genomes in order to…
Individual rare diseases affect a small portion of the population. However, because there are over 7,000 known rare diseases, they are, in fact, somewhat common. It is estimated that around…
If you know someone affected by a rare disease, next week marks an important day for awareness and education in the rare disease community. Anyone can be affected by rare…
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…
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…
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…
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…
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…
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…
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,…
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 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…
The rarest day on the calendar is February 29th — which makes it the perfect time to celebrate Rare Disease Day. On this day, we join millions of people around…
A new review article nicely sums up the utility of long-read sequencing for solving rare diseases that cannot be explained by other methods. The paper, published in the Journal of…
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