The PacBio team hosted a luncheon workshop at ASHG yesterday titled “Population and Clinical Genetics Studies Using Long-read SMRT Sequencing.” Thanks to all the conference attendees who took time out of a very busy meeting to join us! If you couldn’t attend, we summarized the highlights below and will share recordings of the presentations soon. Long-read Sequencing – for Detecting Clinically Relevant Structural Variation [caption id="attachment_20398" align="alignleft" width="150"] Han Brunner, M.D[/caption] Han Brunner, Head of Clinical Genetics at Radboud University Medical Center, kicked off the event with a talk about using SMRT Sequencing to detect clinically relevant structural variation. Introducing…
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…
At the inaugural Festival of Genomics event in Boston, more than 1,500 people turned out to see what was billed as a conference unlike any other. The meeting was indeed unique, featuring a play (starring well-known scientists), a giant chess board, and a Genome Dome, in addition to the more familiar lineup of excellent speakers and workshops. To help kick off the festival, genomic luminaries Craig Venter and James Lupski presented plenary talks on day 1 and set the stage for some exciting science to follow. Lupski’s talk was particularly impactful, as he described how his team at Baylor recently…
By Jonas Korlach, Chief Scientific Officer All of us at Pacific Biosciences are very proud of the momentum SMRT® Sequencing achieved in 2014, especially due to the more than 500 customer publications now in the literature describing its many applications. We remain deeply thankful to all the scientists who have applied our technology to gain new insights into genomes, transcriptomes, and epigenomes. By applying SMRT Sequencing to a wide variety of applications, our customers are demonstrating that long, unbiased reads have brought about new quality standards for many fields of genomic research. This exciting level of scientific activity and collaboration…
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…
This week, our CSO Jonas Korlach hosted a webinar entitled “Gain New Insights in Genome and Transcriptome Research with Greater than 10,000 bp Reads.” He spoke to attendees about the PacBio® technology, elements of sequencing, and applications of the ultra-long reads generated by Single Molecule, Real-Time (SMRT®) Sequencing. Here’s a quick recap. Jonas offered a look at how PacBio’s technology performs in the four key sequencing characteristics that one should consider for any sequencing work: contiguity, accuracy, uniformity, and originality. For contiguity, or how much of a DNA fragment can be sequenced in a single pass, the PacBio platform outperforms…
There were several excellent talks showcasing SMRT® Sequencing data at the annual Advances in Genome Biology and Technology conference. If you didn’t have the opportunity to see them in person, you can watch the recordings: From Cold Spring Harbor Laboratory, Dick McCombie described the need for de novo sequencing, which preserves structural information that can be missed with resequencing. Organisms presented include yeast, Arabidopsis, and rice. McCombie notes that in many cases, full chromosomes are assembled into single contigs with long-read sequencing. He also presented the longest read seen at AGBT: more than 54 Kb. Watch video: A near perfect…
Friday morning’s talks were exceptional, and included genomics heavy-hitters Dick McCombie and Gene Myers — both scientists who were truly influential in sequencing the human genome so many years ago. They have kept pushing boundaries, and their talks were fascinating. Cold Spring Harbor Laboratory’s McCombie offered a presentation based on a late-breaking abstract showing the importance of de novo assembly — rather than resequencing, which can miss structural differences — using SMRT® Sequencing. He showed data from genome sequences of two strains of yeast (S. cerevisiae and S. pombe), both of which were generated using P5-C3 chemistry with BluePippin™ size…
We are flying cross-country to Marco Island, Florida, to attend the fifteenth annual Advances in Genome Biology and Technology conference and, as we have done for years now, we are proud to be sponsoring the event. This year we look forward to connecting with the many researchers who already work with SMRT® Sequencing data, and to meeting others whose scientific efforts could benefit from our technology’s uniquely long reads and base modification information. Here are some of the presentations we’ll be attending: Evan Eichler, University of Washington, “Advances in Sequencing Technology Identify New Mutations, Genes and Pathways Related to Autism” …
By Jonas Korlach, Chief Scientific Officer 2013 was an eventful and exciting year for PacBio. As I described in the 2013 roadmap post a year ago, we have applied numerous improvements to SMRT® Sequencing, resulting in longer read lengths, greater sequencing throughput, new and improved data-analysis methods, and more efficient workflows. We are very pleased that these advances resulted in so many publications, conference presentations, and social media contributions, with the number of peer-reviewed scientific publications from the scientific community now exceeding 100. On behalf of all of us at Pacific Biosciences, I would like to express my heartfelt gratitude…
We recently participated in a workshop on whole-genome microbial epigenetics at the American Society for Microbiology annual meeting in Denver. Using SMRT® Sequencing, the three most common types of bacterial methylation can be studied at base resolution across an entire genome. An exceptional lineup of speakers shared their latest research and we’re pleased to be able to share video of the presentations. Our CSO Jonas Korlach opened the workshop with a brief introduction describing how SMRT Sequencing generates epigenetic information. His presentation was followed by Brian Anton, from New England BioLabs, who presented data on restriction-modification systems and orphan methylases…
by Jonas Korlach, Chief Scientific Officer Finished genomes were the focus of last month's Sequencing, Finishing, Analysis in the Future (SFAF) meeting in Santa Fe, New Mexico. In addition to several presentations, including a talk by Adam Phillippy from the National Biodefense Analysis and Countermeasures Center that demonstrated the ability to generate high-quality, finished microbial genomes using just long-read PacBio data, several papers have appeared recently describing the same principle: the HGAP/Quiver Nature Methods paper, the FDA’s Salmonella Javiana outbreak genome publication, a blog entry by the University of Maryland using HGAP, and a preprint by Adam Phillippy and colleagues…
Last week the White House held an event to honor eleven Immigrant Innovator “Champions of Change” — the best and brightest from around the world who are helping create American jobs, grow our economy, and make our nation more competitive. We are very proud that Jonas Korlach, our Chief Scientific Officer, was one of the honorees, recognized for his role in co-inventing (with Steve Turner) Single Molecule, Real-Time (SMRT®) Sequencing, the technology upon which Pacific Biosciences was founded. “Immigrants have long made America more prosperous and innovative, and the Champions we are celebrating today represent the very best in leadership,…
By Jonas Korlach, Chief Scientific Officer With our minds turning to what 2013 has in store for us, it’s a good opportunity to look ahead to the advances you can expect in Single Molecule, Real-Time (SMRT®) Sequencing. We have many improvements coming to the PacBio® RS and we hope you’ll find them as exciting as we do. As many of you know, we released a number of upgrades at the end of 2012 to improve the PacBio RS platform, including a new loading system that reduces the amount of sample required and the new XL chemistry that boosts average read…