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.
A father’s journey: finding hope through genomics
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…
Child Health Day 2024 – the power of HiFi sequencing in rare disease research
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…
Progress report: HiFi sequencing enables Care4Rare Consortium to advance rare disease research
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.
Rare disease research. Can HiFi sequencing help shorten the journey to answers?
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…
VAMOS! Discover hidden VNTRs with long reads
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,…
Introducing HiFiCNV – copy number calling optimized for HiFi reads
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…
Shining a light on dark genes
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…
A sound approach to rare disease research: a day in the life of Dr. Eliot Shearer
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…
Understanding rare diseases: why research matters
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…