This blog features voices from PacBio — and our partners and colleagues — discussing the latest research, publications, and updates about SMRT sequencing.
What would be possible if every human genetics researcher had a complete reference genome? Today, researchers use a good – but incomplete – reference genome released in 2013. As…
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…
The PacBio team recently attended the American Society of Human Genetics (ASHG) 2021 Virtual Meeting. The meeting provided a forum for the presentation and discussion of cutting-edge science in all…
A new Nature Communications paper shows how scientists continue to make progress elucidating some of the most complex regions of the human genome by deploying long-read PacBio sequencing…
As technology developers, one of our greatest joys is seeing how customers take our sequencing tools and deploy them for innovative and compelling new projects. Metagenomics has been one…
Here at PacBio, we have had the privilege of awarding many SMRT Grants to intrepid scientists who believe that HiFi sequencing data can help them achieve their goals. Recently, we…
It’s a moment three decades in the making: the first complete human genome assembly is here! Reading this you will no doubt feel some sense of déjà vu. After all,…
The power of PacBio HiFi reads has enabled transformative research into human disease. A new collaboration with Invitae, a leader in medical genetics, is intended to help harness the technology…
Scientists in China have used SMRT Sequencing to demonstrate the value of highly accurate long reads for identifying, linking, and phasing variants associated with a group of blood disorders known…
Scientists at Yokohama City University Graduate School of Medicine and Osaka Women’s and Children’s Hospital have discovered a novel pathogenic variant associated with intellectual disability. They made the discovery using…
A new publication from scientists in The Netherlands and Belgium offers tantalizing insights that may shed light on age-related neurodegenerative disorders. The team used SMRT Sequencing to produce a de…
It’s Breast Cancer Awareness Month, and we can’t think of a better way to celebrate than to honor the passionate scientist who has perhaps single-handedly done more to advance breast…
We’re excited to report that another team has used PacBio long-read sequencing to produce a population-specific reference genome — this time an Egyptian genome that should prove valuable for boosting…
We’re excited to announce a research collaboration with Invitae focused on the investigation of clinically relevant molecular targets for use in the development of advanced diagnostic testing for epilepsy. To…
UPDATE: The paper is now available in Nature. Even in the field of genomics where new breakthroughs occur every few months, completion of the first-ever fully sequenced human autosome is…
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