The annual meeting of the American Society of Human Genetics kicked off with a splash yesterday in Orlando, Fla. The PacBio team was thrilled that the opening talks in the presidential address and plenary session included a significant focus on increasing diversity in genetic studies to better characterize underrepresented populations. Nancy Cox, ASHG president, highlighted a number of excellent efforts to address this but noted, “Compared with what we need, what we’ve done so far is really just a drop in the bucket.” As regular blog readers know, we work closely with groups around the world to build population-specific reference…
The Human Genome Structural Variation Consortium, a successor to the 1000 Genomes Project Consortium, recently released a preprint describing an in-depth study of structural variant (SV) detection in human genomes. The scientists found that PacBio long-read sequencing and complementary technologies dramatically improve sensitivity for these important genomic elements when compared to standard short-read sequencing. “Multi-platform discovery of haplotype-resolved structural variation in human genomes” comes from lead authors Mark Chaisson, Ashley Sanders, and Xuefang Zhao; along with corresponding authors Charles Lee, Evan Eichler, and Jan Korbel; and many other consortium members. The study involved extensive sequencing of three family trios —…
Good news for cloud-loving PacBio users: genomics analysis service Bluebee has now implemented HGAP4 for de novo assembly of SMRT Sequencing data. It creates a fully automated, end-to-end assembly pipeline for genomes of all sizes from unmapped BAM files. The pipeline is available now to all Bluebee users. This new analysis service expands the use of SMRT Sequencing data beyond the realm of bioinformatics experts. Bluebee’s platform is designed for ease of use and alleviates the pressure of setting up compute clusters or other on-site tech solutions. Bluebee will also handle updating the pipeline as new versions are released, so…
We were delighted to have so many ASHG attendees join our workshop, titled “Discovering and Targeting Causative Variation Underlying Human Genetic Disease Using SMRT Sequencing.” If you missed it, check out the video recordings, or read our summary below. The event featured three impressive customer presentations, beginning with Euan Ashley from Stanford University. In his presentation titled “Towards Precision Medicine,” He started off by acknowledging that “genomic medicine is here” and described how genomes and exomes are now routinely sequenced on a daily basis, with impressive genetic discovery results. For patients with rare and undiagnosed disease, Ashley reported…
During the Wednesday afternoon sessions of last week's ASHG conference, several speakers provided helpful insights about their use of SMRT Sequencing for a range of applications. Highlights included the following: Yao Yang, a researcher at the Icahn School of Medicine at Mount Sinai, discussed the development of an assay to genotype the CYP2D6 gene to inform drug dosing in patients. CYP2D6 metabolizes 20-25% of all medications, including antidepressants, anti-psychotics, and opiates. There are more than 100 known variants, which include gene deletions and duplications. Variants can have profound impacts on how patients metabolize drugs, with some individuals being ultra-rapid metabolizers…
The PacBio workshop at ASHG 2015 featured talks from two leaders in human genomics, Rick Wilson of Washington University and Richard Gibbs from Baylor University. Mike Hunkapiller, CEO of Pacific Biosciences, opened the workshop with a historical perspective of human genome sequencing, starting with the Human Genome Project. While advances have been made in technology, throughput and cost reductions, the quality of genomes hasn’t kept pace with decreases in cost, he noted. This is why Hunkapiller was particularly proud to share the news of the company’s launch of the Sequel System – which offers SMRT Sequencing and long reads at…
Watch a recording of our AGBT 2015 workshop, "Addressing Hidden Heritability with Long-Read Single Molecule, Real-time (SMRT) Sequencing":
We’re looking forward to the year’s biggest scientific meeting focused on human genetics next week — the American Society of Human Genetics (ASHG) 2015 annual meeting, taking place in Baltimore, Maryland. SMRT® Sequencing will be featured in 36 scientific presentations, as well as our lunchtime workshop. Even if you’re not attending you can attend our workshop virtually to learn more about our newest SMRT Sequencer – the Sequel™ System — and about the latest uses of SMRT Sequencing for human biomedical applications. Our workshop, “Addressing Hidden Heritability through Long-Read Single Molecule, Real-Time (SMRT) Sequencing” will be held on Wednesday, October 7, from…
We are excited to announce our newest Single Molecule, Real-Time sequencer, the Sequel™ System. Watch this short video to learn about this exciting evolution in SMRT® Sequencing. The Sequel System provides higher throughput, more scalability, a reduced footprint and lower sequencing project costs compared to the PacBio® RS II System, while maintaining the benefits of SMRT technology. The core of the Sequel System is the capacity of its redesigned SMRT Cells, which contain one million zero-mode waveguides (ZMWs) at launch, compared to 150,000 ZMWs in the PacBio RS II. Active individual polymerases are immobilized within the ZMWs, providing windows to…
Scientists around the world are getting ready for the annual meeting of the American Society of Human Genetics taking place October 18-22 at the San Diego Convention Center. We’re looking forward to a number of excellent presentations and posters, and are delighted to see that many of them will focus on applying Single Molecule, Real-Time (SMRT®) Sequencing to human studies. If you’ll be among those attending ASHG, be sure to attend our workshop, A New Look at the Human Genome – Novel Insights with Long-Read PacBio Sequencing, taking place 12:30 – 2:00 p.m. on Tuesday, October 21. Register in advance to…