Blog
November 15, 2016
‘Reveal Hidden Genetic Variation’
On-Demand Webinar Now Available
We recently co-sponsored a webinar with Springer Nature, and if you missed it live, you can now register to watch the recording. Moderated by Nature Publishing Group’s Jayshan Carpen, the…
November 14, 2016
First Look: Firefly Genome Sequencing Results
You may remember the firefly genome sequencing project, which was a finalist in our recent SMRT Grant competition and ultimately was crowdfunded through the Experiment site and our Genome Galaxy…
November 10, 2016
ASHI 2016: Long-read sequencing proves effective for full-length HLA gene sequencing
Last month we attended the annual meeting of the American Society for Histocompatibility and Immunogenetics (ASHI), where we were impressed to see the great progress in scientific research around transplantation,…
November 9, 2016
More than Halfway There: Richard Gibbs Talks Clinical Genetics with Mendelspod
Many scientists who participated in the original Human Genome Project shared a grand vision that individual genomes would one day be part of routine medical care. Genomics veteran Richard Gibbs,…
November 3, 2016
Reference Genomes Should Reflect Population Diversity: An Interview with Valerie Schneider
In a recent Mendelspod interview, host Theral Timpson talked with Valerie Schneider of the National Center for Biotechnology Information about the work of the Genome Reference Consortium (GRC) to bring…
October 25, 2016
G10K & B10K Initiatives to Generate Thousands of High-Quality Vertebrate Genomes to Aid Conservation Efforts
UPDATED September 14, 2018 The expanded G10K project, The Vertebrate Genome Project, released its first batch of 15 high-quality assemblies. ORIGINAL POST October 25, 2016 We’re excited to announce that…
October 19, 2016
Live Video: Discovering and Targeting Causative Variation Underlying Human Genetic Disease Using SMRT Sequencing
October 19, 2016
Identifying Structural Variants in NA12878 from Low-Fold Coverage Sequencing on the PacBio Sequel System
Recent de novo assemblies of individual human genomes have uncovered thousands of structural variants, many of which are accessible only with PacBio long reads [1-3]. Personal Genome PacBio Coverage Deletions…
October 18, 2016
ASHG 2016: Tune into SMRT Sequencing Presentations in Vancouver
We’re here in rainy, but beautiful Vancouver for the American Society of Human Genetics. ASHG 2016 promises to be every bit as fascinating as always, with great speakers, excellent sessions, and thought-provoking…
October 17, 2016
New FALCON Tools Enable Diploid Assemblies from SMRT Sequencing Data
In a Nature Methods paper released today, scientists describe the new bioinformatics tools to produce diploid genome assemblies from SMRT Sequencing reads. FALCON (Fast ALignment and CONsensus for assembly) and…
October 5, 2016
Diploid sssembly of Korean genome reveals population-specific variation and novel sequence
In a paper published today in Nature, scientists from Seoul National University, Macrogen, and other institutions present the de novo genome assembly for a Korean individual. The effort used SMRT…
September 29, 2016
West Coast User Group Meeting Recap: SMRT Sequencing for Goats, Grapes, Personalized Medicine & More
More than 150 SMRT Sequencing users gathered at Stanford University for our annual West Coast User Meeting & workshops earlier this month. Many thanks to all the scientists who attended…
September 27, 2016
Sequel System Data Release: Arabidopsis Dataset and Genome Assembly
Today we are pleased to release the first Arabidopsis thaliana (Ler-0) dataset and de novo genome assembly generated with the Sequel System, using two SMRT Cells and 12 hours of…
September 20, 2016
UPDATED Data Release: Comprehensive Alzheimer Brain Isoform Sequencing (Iso-Seq) Dataset
NOTE: This blog was updated with the latest data from the Sequel II System on March 9, 2020. Alzheimer’s disease (AD) is a devastating neurodegenerative disease that affects ~44 million…
September 6, 2016
Avian Celebrity: Kākāpō Genomes Make Headlines
A recent cover story in New Zealand Geographic vividly details the efforts to sequence not just the kākāpō genome, but the genomes of every single living kākāpō. If you missed…