This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about HiFi sequencing.
For families affected by facioscapulohumeral muscular dystrophy (FSHD), one of the hardest parts of the condition is not knowing what comes next. FSHD is one of the more common…
We’ve loved sharing the Beyond the Bench series with audiences this year. So far, we’re hearing from viewers how much they value seeing the human side of genomics, and…
This rare disease month, we’ve explored the power of telling families’ stories and the impact of adopting HiFi sequencing in real-world settings. Each perspective is a valuable piece of…
When you work in rare disease, you recognize the pattern: Test. Wait. Repeat. For families, that loop is a stretch of time that includes birthdays, school years, and treatment…
Rare diseases are often described in numbers. Prevalence rates. Case counts. Years to diagnosis. But for families living with rare disease, those numbers are only part of the story….
We just got back from the Molecular Pathology (AMP) conference in Boston, where the conversation around clinical research and translational genomics was in full motion. The field is moving…
Carrier screening is one of the most influential ways genetics is shaping the future of human health. By revealing inherited risks before they ever appear, carrier screening has changed…
As February comes to a close, we approach Rare Disease Day on February 28 and reflect on the purpose behind our work in rare disease research. At PacBio, our…
A rare disease can be an immense burden on patients and families, especially when it comes to childhood conditions. The path from symptoms to diagnosis to treatment is often…
In February we are observing Rare Disease Month, a time to shine a light on the experiences of rare disease patients and their families. At PacBio, we are committed…
In Austin, Texas, Casey McPherson balances many roles—musician, entrepreneur, and most importantly, dad to his two daughters, Weston and Rose. But beneath the day-to-day rhythms of family life lies…
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,…
If you have a question, need to check the status of an order, or are interested in purchasing an instrument, we're here to help.