November 15, 2021 |
Asset Tag: Whole Genome Sequencing,
November 2, 2021 |
Uncovering Neurological Disorders Through an Examination of VNTRs
Many neurological diseases result from expansion of unstable variable nucleotide tandem repeats (VNTRs) that influence gene transcription of neighboring genes. In this talk, Dr. Henne Holstege presents research that investigated…
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…
November 2, 2021 |
Integrated Rare Disease using Long-Read Genome Sequencing
Genomic variation beyond single nucleotide variants, including structural variation (SV), copy number variants (CNV), and repeat expansions, plays a significant role in rare disease. However, current technologies require multiple tests…
October 28, 2021 | Infectious disease research
HiFiViral SARS-CoV-2: A Kitted Solution for Genome Surveillance that is Robust Across Sample Input Quantities and New Variants
The COVID-19 pandemic continues to be a major global epidemiological challenge with the ongoing emergence of new strain lineages that are more contagious, more virulent, drug resistant and in some cases evade vaccine-induced immunity. In response, the HiFiViral SARS-CoV-2 kit (PacBio; Menlo Park, California) was developed as a scalable solution for the Sequel II and Sequel IIe systems. The HiFiViral SARS-CoV-2 is an easy to perform solution for surveillance of variants to support pandemic response by public health. With 80% of samples yielding complete genome coverage in a 96-plex run, the combination of long read lengths and a differentiated probe design provides highly accurate results and robust genome coverage across a range of Ct values.
October 28, 2021 |
Simplified and Robust Library Construction for High-Throughput HiFi Sequencing for Human Variant Detection
New workflow for preparing SMRTbell libraries from <4ug gDNA input using AMPure PB bead purification. This workflow requires samples with high molecular weight gDNA with minimal presence of <5kb fragments.
October 28, 2021 |
HiFiViral: A Novel Method for Surveillance of SARS-CoV-2 that is Robust Across Sample Input Quantities and the Evolution of New Variants
The COVID-19 pandemic continues to be a major global epidemiological challenge with the ongoing emergence of new strain lineages that are more contagious, more virulent, drug-resistant, and in some cases…
October 28, 2021 |
Methylation Detection with PacBio HiFi Sequencing
In this talk, Dr. Aaron Wenger, describes how PacBio HiFi reads (15 kb – 25 kb, >99.9% accuracy) provide the most complete view of human genetic variation, including small variants…
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 24, 2021 |
Four Chromosome Scale Genomes and a Pan-Genome Annotation to Accelerate Pecan Tree Breeding
In this SMRT Science Journal Club talk, John Lovell from HudsonAlpha Institute for Biotechnology discusses his work constructing and analyzing de novo pecan genome assemblies and annotations to help accelerate…
September 23, 2021 |
Getting the Most Out of Your Breeding Program with DNA and RNA Sequencing
Understanding genome sequences and how they evolved is critical for harnessing that evolutionary process for agricultural improvement. Whether asking questions about the gain/loss of genes, the role of structural variation…
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.