Asset Tag: human genome
November 15, 2021 | Products, procedures + protocols
Brochure — SMRT Sequencing: Delivering highly accurate long reads to drive discovery in life science
Learn how Single Molecule, Real-Time (SMRT) Sequencing and the Sequel IIe System and will accelerate your research by delivering highly accurate long reads to provide the most comprehensive view of genomes, transcriptomes and epigenomes.
November 2, 2021 |
HiFi Sequencing: See What You’ve Been Missing
PacBio Vice President of Segment Marketing, Dr. Jennifer Stone, demonstrates how HiFi sequencing is changing the game in human genetics by sharing some of the exciting milestones and seminal publications…
October 20, 2021 |
With Long Reads and Short Reads, the Possibilities are Endless – PacBio ASHG 2021 Fireside Chat
With the September 2021 closing of PacBio’s acquisition of Omniome, PacBio intends to become the first company to offer both long-read and short-read sequencing platforms. What does this mean for…
September 7, 2021 |
Long-Read Genome Sequencing for the Molecular Understanding of Neurodevelopmental Disorders
In this ESHG 2021 Workshop, PacBio Chief Scientific Officer Jonas Korlach, Ph.D., describes why HiFi sequencing improves the ability to detect pathogenic variants that previously went undetected with other technologies. He…
August 30, 2021 |
Procedure & Checklist — Preparing HiFi SMRTbell Libraries using SMRTbell Express Template Prep Kit 2.0
August 19, 2021 | Human genetics research
Whitepaper — Structural variation in the human genome
Structural variation accounts for much of the variation among human genomes. Structural variants of all types are known to cause Mendelian disease and contribute to complex disease. Learn how long-read sequencing is enabling detection of the full spectrum of structural variants to advance the study of human disease, evolution and genetic diversity.
August 19, 2021 | Products, procedures + protocols
Brochure — SMRT Link: Explore and analyze your data with confidence
With SMRT Link you can unlock the power of PacBio Single Molecule, Real-Time (SMRT) Sequencing using our portfolio of software tools designed to set up and monitor sequencing runs, review performance metrics, analyze, visualize, and annotate your sequencing data.
August 19, 2021 |
Product note — Fast, high-resolution DNA sizing with the fragment analyzer system
The Agilent 5200, 5300, and 5400 Fragment Analyzer instruments are fast, high-resolution benchtop capillary electrophoresis (CE) platforms that utilize proprietary markers to accurately size fragments ranging from 10 to 50 kb. This platform allows important DNA quality checkpoints to be completed in one hour for de novo large-genome sequencing projects and other PacBio applications leveraging multi-kilobase read lengths. The instrument can be used in place of time-consuming QC steps involving pulsed field gel electrophoresis (PFGE), saving time by avoiding multiple overnight gel runs when preparing large-insert SMRTbell libraries. Alternative DNA-sizing instruments cannot accurately resolve large DNA fragments in this range.
August 19, 2021 |
PacBio Certified Service Providers
Explore a list of PacBio certified service providers.
August 19, 2021 |
Informational guide — Looking beyond the single reference genome to a pangenome for every species
Interested to learn about pangenomes? Explore this guide to learn how they provide a more complete picture of the core genes of a given species and how that can provide better biological understanding.
August 19, 2021 | Infectious disease research
Infographic — Structural variants and disease
Explore the types of human genomic variation and the diseases known to be caused by structural variants.
August 19, 2021 |
Infographic — Identify the cause of unsolved genetic disease with long-read sequencing
Explore how long-read sequencing enables solving of rare and mendelian diseases.
August 19, 2021 |
Case Study — Scientists deconstruct cancer complexity through genome and transcriptome analysis
At Cold Spring Harbor Laboratory, scientists used SMRT Sequencing to decode one of the most challenging cancer genomes ever encountered. Along the way, they built a portfolio of open-access analysis tools that will help researchers everywhere make structural variation discoveries with long-read sequencing data.
August 19, 2021 | Cancer research
Brochure — Sequence cancer variants with confidence
To bring personalized medicine to all patients, cancer researchers need more reliable and comprehensive views of somatic variants of all sizes that drive cancer biology.