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.
Beyond the Bench: Exploring the terrain of repeat expansion diseases with HiFi sequencing
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…
Rare disease month: Activating the community through hackathons
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…
Radboud UMC research highlights promise of HiFi long-read sequencing to match standards of care in rare disease genomics
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 Disease Month: Taking a People-First approach in the global fight against rare disease
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….
Publication spotlight:
First major study from the HiFi Solves EMEA consortium showcases the potential clinical power of a HiFi genome
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…
The growing importance of carrier screening in genomics
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…
Rare Disease Month: Putting People First
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…
How HiFi sequencing is making a difference for rare disease research at Children’s Mercy
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…
How HiFi sequencing lays the groundwork for accelerating rare disease diagnostics in the clinic
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…