Blog
February 21, 2019
Scientists Uncover Epilepsy-Causing Structural Variant with SMRT Sequencing
A new publication in the Journal of Human Genetics describes an impressive effort to identify the pathogenic variant causing progressive myoclonic epilepsy in two siblings. The scientific team used SMRT…
February 20, 2019
Unsolved Mysteries: Sequencing to Solve Neurologic Disease with Structural Rearrangements
Please join us in congratulating Kristen Sund from Cincinnati Children’s Hospital Medical Center for winning our 2018 Structural Variation SMRT Grant Program! Her proposal to use SMRT Sequencing to pinpoint…
February 18, 2019
Asian Aquaculture Industry Benefits From Two New Genome Assemblies
With their large brains, sophisticated sense organs and complex nervous systems, cephalopods could teach us a thing or two about learning, memory, and adaptability. But despite their evolutionary, biological, and…
February 7, 2019
Service Providers: Boost Your Reach with a Simple Marketing Strategy
Getting the word out about your services is a surefire way to get more interest — and ultimately more projects — into your pipeline. The good news is, it doesn’t…
January 24, 2019
Scientists Produce Valuable New Human Structural Variation Resource Using SMRT Sequencing
In an effort to produce a comprehensive list of structural variants in the human genome, scientists from the University of Washington, the University of Chicago, Washington University, and Ohio State…
January 16, 2019
Q&A: Scientists Discovered Somatic Recombination in the Brain. Now What?
The recent Nature paper describing the first evidence of somatic gene recombination in the human brain has been getting so much attention that we went back to the lab’s PI…
January 15, 2019
One For All: HiFi Long Reads for de Novo Assembly and Comprehensive Variant Detection
UPDATED August 12, 2019 This paper is now published in Nature Biotechnology. ORIGINAL POST January 15, 2019 We’re excited to report on new SMRT Sequencing advances that will ultimately help…
January 14, 2019
Webinar Recap: SMRT Sequencing offers Many Advantages for Microbial Research
According to many, PacBio is the new “gold standard” in microbial sequencing. Chief Scientific Officer Jonas Korlach notes that its ability to simultaneously provide long sequencing reads (genome contiguity), high…
January 9, 2019
Scientists Resolve Epilepsy-Causing Repeat Expansion with Sequel System
Scientists in Japan report using the unique properties of SMRT Sequencing to detect a structural variant (SV) responsible for a hereditary form of epilepsy. The 4.6 kb intronic repeat insertion…
January 8, 2019
SMRT Grant Winner: Uncovering the Metabolic Secrets of Hibernation
What has four legs, lots of fat and fur, and will possibly help uncover novel mechanisms to combat diabetes? Grizzly bears! If humans were to undergo regular, extended cycles of…
December 27, 2018
An Outstanding Year of SMRT Science: 2018 Publication Review
Scientists were certainly sequencing with confidence in 2018, as evidenced by the number of significant and wide-ranging advancements made using SMRT Sequencing technology, several of which made the cover of…
December 26, 2018
SMRT Sequencing — The PacBio Spirit of Past, Present, and Future
In the rapidly evolving world of DNA sequencing, the community is often focused on what’s new and what’s next. There’s not much opportunity for retrospection. But two recent articles offer…
December 24, 2018
Looking Forward to Sequencing Advances and Novel Findings at PMWC 2019
Advances in personalized medicine — whether it’s the discovery of a new pathogenic variant or a success story about a patient treated with a tailored therapy — seem to be…
December 21, 2018
The Genomic Gift Worth Giving: New Assembly Could Help Conserve Declining Turtle Dove Populations
You may be more likely to get five gold rings or three French hens than two Turtle doves this Christmas. The subject of the famous holiday carol is in precipitous…
December 19, 2018
New Low-Input Protocol Enables High-Quality Genome Created from Single Mosquito
UPDATED January 18, 2019 This paper is now available at Genes. ORIGINAL POST December 19, 2018 High-quality reference and de novo genomes have been celebrated by geneticists, population biologists and conservationists…