This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
Children’s health is central to our future. That’s why we set aside the first Monday of October as Child Health Day to raise awareness about the importance of children’s…
In honor of Rare Disease Day 2024, we spoke with Dr. Kym Boycott of the Care4Rare Consortium about how HiFi sequencing has helped deliver answers to families impacted by rare genetic diseases.
According to the United States’ National Institutes of Health (NIH), an estimated 7,000 rare diseases collectively impact between 3.5% to 5.9% of the global population, equating to 263 to 446…
See how the Chaisson lab created a new method to characterize human VNTR variation with PacBio long-read sequencing. Structural variants are hard to find with short-read sequencing methods At present,…
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,…
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