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Friday, September 18, 2020

Webinar: Beyond a single reference genome – The advantages of sequencing multiple individuals

Hear how scientists have used PacBio sequencing to develop pangenome collections and to study population genetics of plant and animal species to power their research. Learn about the advantages of sequencing multiple individuals to gain comprehensive views of genetic variation, and understand the speed, cost, and accuracy benefits of using highly accurate long reads (HiFi reads) to sequence your species of interest.

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Friday, September 18, 2020

Educational Video: Variant Detection with HiFi reads – Understanding results from the precisionFDA Truth Challenge

In this short video, Aaron Wenger, a Principal Scientist at PacBio, explains what highly accurate long reads, or HiFi reads, are and how they help to detect all variant types including single nucleotide, indels, and structural variants. He goes on to recap the precisionFDA Truth Challenge V2 which used Genome in a Bottle (GIAB) benchmarks to evaluate various sequencing technologies. In the 2020 challenge, when ranked for accuracy, PacBio HiFi reads delivered the highest precision and recall in all categories.

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Friday, September 4, 2020

Application Note: Considerations for Using the Low and Ultra-Low DNA Input Workflows for Whole Genome Sequencing

As the foundation for scientific discoveries in genetic diversity, sequencing data must be accurate and complete. With highly accurate long-read sequencing, or HiFi sequencing, there is no longer a compromise between read length and accuracy. HiFi sequencing enables some of the highest quality de novo genome assemblies available today as well as comprehensive variant detection in human samples. PacBio HiFi libraries constructed using our standard library workflows require at least 3 µg of DNA input per 1 Gb of genome length, or ~10 µg for a human sample. For some samples it is not possible to extract this amount of…

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Friday, September 4, 2020

Purchasing Guide: Application consumable bundles

With this PacBio Application Consumable Bundles Purchasing Guide, you can easily order the required consumables for the Sequel II System. Simply choose your SMRT Sequencing Application and with the single part number place your order to get started.

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Thursday, August 27, 2020

Case Study: SMRT Sequencing provides a first look at repeat expansion disorder sequence

Scientists at UC Davis School of Medicine have used the PacBio RS to sequence a previously “unsequenceable” region of highly repetitive DNA on the X chromosome. Their research has provided a critical leap forward in understanding the genetic complexity of repeat expansion disorders such as Fragile X Syndrome. The new method provides a path towards the first accurate means of population screening for Fragile X Syndrome, which is the most common cause of inherited intellectual disability and the most common known genetic cause of autism.

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Thursday, August 27, 2020

Featured Interview: The Rise of Long Reads – Mike Snyder says long-read sequencing is critical to understanding the transcriptome

Genomics luminary Mike Snyder, Profesor and Chair of the Genetics Department at Stanford University and Director of the Stanford Center for Genomics and Personalized Medicine, has been making strides in gene expression studies for years. His latest advance: analyzing whole human transcriptomes, which he calls personal transcriptomes, to better understand gene activity in an individual. Snyder says this approach could one day become a crucial element in clinical care. Dr. Snyder has published recent papers in Nature Biotechnology and PNAS using Single Molecule, Real- Time (SMRT) Sequencing for transcriptome analysis and demonstrated that long reads enable full coverage of RNA molecules. Recently he talked…

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Thursday, August 27, 2020

Case Study: Scientists create gold standard plant and animal genomes with SMRT Sequencing

From crop improvement to breeding healthier livestock to modeling human disease, scientists are using PacBio Sequencing to advance understanding of plant and animal genomes. In this article, we look at four examples of plant and animal genome references improved or made possible with SMRT Sequencing, including an early example of transcriptome sequencing of a chicken for improved annotation. These examples highlight insights gained with SMRT Sequencing that are missed with short-read data, such as complex regions or novel genes.

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Thursday, August 27, 2020

Case Study: Assembling high-quality human genomes – Beyond the ‘$1,000 genome’

Scientists from WashU, Macrogen, and Mount Sinai are using long-read sequencing with single-molecule, next-generation genome mapping to create gold-quality de novo assemblies of human genomes. Unbiased de novo assembled genomes also highlight the substantial amount of structural variation unique to individuals and populations, which cannot be accessed by short-read technologies that use a reference-based re-sequencing approach.

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Thursday, August 27, 2020

Certified Service Provider Profile: GATC Biotech expands applications with unique attributes of SMRT Sequencing

GATC Biotech, the first PacBio Certified Service Provider in Europe, became a leader in the sequencing field by continuously adopting new technologies, developing innovative products, and delivering quality results to its 10,000-strong customer base. Today, GATC Biotech is constantly looking for new ways to maximize the value of highly accurate, long-read sequencing.

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