fbpx
X

Quality Statement

Pacific Biosciences is committed to providing high-quality products that meet customer expectations and comply with regulations. We will achieve these goals by adhering to and maintaining an effective quality-management system designed to ensure product quality, performance, and safety.

X

Image Use Agreement

By downloading, copying, or making any use of the images located on this website (“Site”) you acknowledge that you have read and understand, and agree to, the terms of this Image Usage Agreement, as well as the terms provided on the Legal Notices webpage, which together govern your use of the images as provided below. If you do not agree to such terms, do not download, copy or use the images in any way, unless you have written permission signed by an authorized Pacific Biosciences representative.

Subject to the terms of this Agreement and the terms provided on the Legal Notices webpage (to the extent they do not conflict with the terms of this Agreement), you may use the images on the Site solely for (a) editorial use by press and/or industry analysts, (b) in connection with a normal, peer-reviewed, scientific publication, book or presentation, or the like. You may not alter or modify any image, in whole or in part, for any reason. You may not use any image in a manner that misrepresents the associated Pacific Biosciences product, service or technology or any associated characteristics, data, or properties thereof. You also may not use any image in a manner that denotes some representation or warranty (express, implied or statutory) from Pacific Biosciences of the product, service or technology. The rights granted by this Agreement are personal to you and are not transferable by you to another party.

You, and not Pacific Biosciences, are responsible for your use of the images. You acknowledge and agree that any misuse of the images or breach of this Agreement will cause Pacific Biosciences irreparable harm. Pacific Biosciences is either an owner or licensee of the image, and not an agent for the owner. You agree to give Pacific Biosciences a credit line as follows: "Courtesy of Pacific Biosciences of California, Inc., Menlo Park, CA, USA" and also include any other credits or acknowledgments noted by Pacific Biosciences. You must include any copyright notice originally included with the images on all copies.

IMAGES ARE PROVIDED BY Pacific Biosciences ON AN "AS-IS" BASIS. Pacific Biosciences DISCLAIMS ALL REPRESENTATIONS AND WARRANTIES, EXPRESS, IMPLIED OR STATUTORY, INCLUDING, BUT NOT LIMITED TO, NON-INFRINGEMENT, OWNERSHIP, MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE. IN NO EVENT SHALL Pacific Biosciences BE LIABLE FOR ANY DIRECT, INDIRECT, INCIDENTAL, PUNITIVE, OR CONSEQUENTIAL DAMAGES OF ANY KIND WHATSOEVER WITH RESPECT TO THE IMAGES.

You agree that Pacific Biosciences may terminate your access to and use of the images located on the PacificBiosciences.com website at any time and without prior notice, if it considers you to have violated any of the terms of this Image Use Agreement. You agree to indemnify, defend and hold harmless Pacific Biosciences, its officers, directors, employees, agents, licensors, suppliers and any third party information providers to the Site from and against all losses, expenses, damages and costs, including reasonable attorneys' fees, resulting from any violation by you of the terms of this Image Use Agreement or Pacific Biosciences' termination of your access to or use of the Site. Termination will not affect Pacific Biosciences' rights or your obligations which accrued before the termination.

I have read and understand, and agree to, the Image Usage Agreement.

I disagree and would like to return to the Pacific Biosciences home page.

Pacific Biosciences
Contact:
Tuesday, June 15, 2021

Long-read Sequencing to Assess an Expanded Repeat in C9orf72

In this presentation, Dr. Marka van Blitterswijk shares the exciting results of her most recent targeted long-read sequencing study. Together with her colleagues, she performed No-Amp sequencing to examine an expanded GGGGCC-repeat in C9orf72, which causes fatal neurodegenerative diseases. Her team assessed the length of the C9orf72 expansion, as well as the presence of interruptions, thus revealing relevant clinico-pathological associations and demonstrating how powerful No-Amp sequencing is.

Read More »

Tuesday, June 15, 2021

The Evolution and Function of a Large Tandem Repeat Associated with ALS

In this talk, Dr. Meredith Course presents her research on uncovering a 69-bp human-specific tandem repeat expansion in the final intron of WDR7. Larger repeat copy number is significantly associated with sporadic ALS cases, suggesting that it plays a role in disease susceptibility. Long-read sequencing reveals remarkable internal nucleotide variation, which was harnessed to determine the evolutionary origin of the expansion, its mechanism of replication, and its current state in modern-day humans. Each copy of the repeat has been determined to be able to form microRNAs and aggregate in cells and may sequester ALS-related RNA-binding proteins.

Read More »

Tuesday, June 15, 2021

Improving the Prognosis and Genetic Counseling in DM1 Patients

In this talk, Dr. Stephanie Tome describes using PacBio Single Molecule, Real-Time (SMRT) Sequencing to precisely measure large CTG repeat size and identify sequence interruptions of expanded allele to understand clinical and genetic variability in DM1 patients, sequencing several DM1 patients with CTG repeat expansion ranging from 130 to > 1000 CTG repeats on the Sequel I and II Systems from amplicons. She obtained more than 77% full DM1 reads per sample, with >70% of the reads from expanded alleles. The data includes long reads in the expected size range for all samples, including DM1 patients with more than 1000…

Read More »

Tuesday, June 15, 2021

Multiplex, Long-Read Sequencing of Ataxia Repeat Expansions

In this talk, Dr. Zachary McEachin describes how No-Amp targeted sequencing enables sequencing analysis of multiple (at least 15) Ataxia-related repeat expansion loci in one assay, presenting example sequencing results with selected samples from Ataxia patients and patients with unknown diagnostics. He demonstrates how PacBio HiFi sequencing with the No-Amp approach could provide repeat expansion and sequence interruption information at the target loci that is not available with PCR or southern-blot based diagnostics assays.

Read More »

Friday, June 4, 2021

Advancing Pharmacogenomics Research and the Need for Highly Accurate Long-Read Sequencing

Through Pharmacogenomics (PGx), we can explore how a person’s genome affects their response to drugs to enable the development of safe and effective medications tailored to their genetic makeup. In this talk, you’ll learn how PacBio HiFi sequencing: is cost-effective and highly accurate; enables comprehensive interrogation of pharmacogenomics genes—detecting all types of variants even in challenging regions; allows for the sequencing of pharmacogenomics genes as single-gene assays or large panels; produces data that is highly concordant with other technologies—adding value through comprehensive variant detection, copy number assessment, and phasing.

Read More »

Monday, May 24, 2021

PacBio Data Deep Dive: A Closer Look at HiFi Sequencing

The Sequel IIe System produces highly accurate long reads (HiFi reads) quickly and cost-effectively thanks to increased computational capacity and on-instrument data processing. This results in a significant reduction of overall secondary analysis time and reduces the computational needs in terms of file transfer and data storage. This webinar provides an overview of PacBio data for beginner and advanced users of HiFi reads, exploring the content of PacBio BAM files, providing examples of how HiFi reads can be filtered, and going through recommendations for downstream analysis.

Read More »

Monday, May 24, 2021

DNA and Sample Preparation for PacBio HiFi Sequencing – Best Practices and FAQ

With highly accurate long reads (HiFi reads) of >99% accuracy, the Sequel IIe System is the tool of choice for producing reference quality assemblies, calling variants with the highest precision, reading full-length transcripts, characterizing isoform diversity, and many more applications. To maximize the quality of your results, DNA and sample preparation are critical steps in your sequencing workflow. In this webinar we cover the following points: preparing DNA for PacBio HiFi sequencing, selecting the right HiFi library preparation protocol for your project, and interpreting sequencing metrics and troubleshooting.

Read More »

Monday, May 24, 2021

Complete and Accurate Human Genomes with HiFi Reads

In this CSHL Biology of Genomes 2021 virtual workshop, Aaron Wenger from PacBio discusses examples of how advances in highly accurate long-read (HiFi) sequencing have enabled exciting developments in human genome research, including sequencing the genomes of 100 individuals with unexplained diseases.

Read More »

Monday, May 24, 2021

Unearthing the Biology in Plant & Animal Genomes

In this CSHL Biology of Genomes 2021 virtual workshop, Michelle Vierra from PacBio discusses examples of how advances in highly accurate long-read (HiFi) sequencing have enabled exciting developments in plant and animal genomics, including phasing the transcriptome of a 27 gigabase polyploid plant.

Read More »

Monday, May 17, 2021

A Bioinformatics Workflow for Comprehensive Detection and Prioritization of Variants with PacBio HiFi Reads

Over the past few years, many tools have been developed to enable comprehensive variant detection from PacBio HiFi reads. This talk describes a flexible, modular workflow for variant detection and prioritization from HiFi whole-genome sequencing data, including open-source tools for quality control, alignment, small variant detection, and phasing, structural variant detection, genotyping of tandem repeats, and de novo assembly. This pipeline is available on GitHub as a Snakemake workflow and has been adapted into a Cromwell WDL workflow by Microsoft Genomics.

Read More »

Monday, May 17, 2021

Long Reads to Identify Hidden Structural Variants in Rare Disease

Alexander Hoischen’s research group ‘Genomic Technologies and Immuno-Genomics’ has expertise in the identification of rare disease genes using the latest genomics tools, with a recent particular focus on immune-related disease genes. His group has been the first to identify a disease causing dominant de novo mutation for a Mendelian disorder by exome sequencing, followed by the identification of several disease genes for rare diseases. Following a six-month research stint in 2013 in the laboratories of collaborators, Prof. Eichler and Prof. Shendure (UW, Seattle; USA), Dr. Hoischen established the latest technology for accurate and large-scale targeted re-sequencing (smMIPs) in Nijmegen. Recently,…

Read More »

Monday, May 17, 2021

Scalable Workflow for Constructing HiFi Libraries

In this talk, Christine Lambert describes a simple and scalable workflow for generating high-quality HiFi reads appropriate for comprehensive variant detection (SNVs, Indels, SVs) and de novo assembly. Using this workflow, multiple samples can be processed manually (up to 16) with a multichannel pipet and strip tubes. Up to 96 samples can be processed on an automated liquid handler such as the Sciclone Liquid Handler Workstation. She also describes solutions for high-throughput SMRTbell library construction for generating HiFi reads on the Sequel IIe System.

Read More »

1 2 3 4 14

Subscribe for blog updates:

Archives