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Thursday, August 27, 2020

Immunology Brochure: Invaluable insights into immunology

In order to understand the molecular mechanisms governing the outcomes of disease, health and survival, immunologists have to characterize exceptionally complex genomic regions, like major histocompatibility complex (MHC), killer cell immune receptors (KIR), and the B and T-cell immune repertoire. Single Molecule, Real-Time (SMRT) Sequencing delivers the long read lengths, uniform coverage and high accuracy necessary to comprehensively and confidently resolve these immune sub-genomic regions. The granularity of data generated by PacBio® reads provides new access to imputation-free characterization of genes and haplotypes for invaluable genomic insights to advance disease association and evolutionary research.

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Thursday, August 27, 2020

HLA Sequencing Application Brochure: Fully phased, allele-specific HLA sequencing – the perfect pair

Single Molecule Real-Time (SMRT) Sequencing delivers reads that span the lengths of the majority of HLA class I and II genes. Unambiguously phase 4-field HLA types without imputation. With a more accurate and complete picture, gain deeper understanding of immune-related disease causality, graft-versus-host disease in hematopoietic transplantation, and drug hypersensitivity.

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Thursday, August 27, 2020

Case Study: SMRT sequencing brings clarity to HIV vaccine and transplant research at the Wisconsin national primate research center

The Wisconsin National Primate Research Center (WNPRC) is a leading Major Histocompatibility Complex (MHC) typing lab that focuses on monkeys. While many scientists are familiar with the importance of characterizing the histocompatibility region of the human genome for applications like disease research or tissue typing before organ transplantation, fewer are aware of the need to accurately type this region in non-human primates. At the primate research lab, part of the University of Wisconsin- Madison, scientists are analyzing immune regions to help test potential HIV vaccines and AIDS therapies. Their work is essential for understanding the effects of treatment ahead of…

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Thursday, August 27, 2020

SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data

The PacBio Platform includes an extensive software portfolio that employs key advantages of SMRT (Single Molecule, Real-Time) Sequencing technology: extraordinarily long reads, highest consensus accuracy, uniform coverage and simultaneous epigenetic characterization. Core elements of our analytical portfolio include SMRT Analysis software, DevNet and SMRT Compatible products.

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Thursday, August 27, 2020

Case Study: Mining complex metagenomes for protein discovery with long-read sequencing

The bacteria living on and within us can impact health, disease, and even our behavior, but there is still much to learn about the breadth of their effects. The torrent of new discoveries unleashed by high-throughput sequencing has captured the imagination of scientists and the public alike. Scientists at Second Genome are hoping to apply these insights to improve human health, leveraging their bioinformatics expertise to mine bacterial communities for potential therapeutics. Recently they teamed up with scientists at PacBio to explore how long-read sequencing might supplement their short-read-based pipeline for gene discovery, using an environmental sample as a test…

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Thursday, August 27, 2020

Application Brief: Targeted sequencing for amplicons – Best Practices

With Single Molecule, Real-Time (SMRT) Sequencing and the Sequel System, you can easily and cost effectively generate highly accurate long reads (HiFi reads, >99% single-molecule accuracy) from genes or regions of interest ranging in size from several hundred base pairs to 20 kb. Target all types of variation across relevant genomic regions, including low complexity regions like repeat expansions, promoters, and flanking regions of transposable elements.

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Thursday, August 27, 2020

Application Brief: Long-read RNA sequencing – Best Practices

With Single Molecule, Real-Time (SMRT) Sequencing and the Sequel Systems, you can easily and affordably sequence complete transcript isoforms in genes of interest or across the entire transcriptome. The Iso-Seq method allows users to generate full-length cDNA sequences up to 10 kb in length — with no assembly required — to confidently characterize full-length transcript isoforms.

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Thursday, August 27, 2020

Application Brief: No-Amp targeted sequencing – Best Practices

With the PacBio no-amplification (No-Amp) targeted sequencing method, you can now sequence through previously inaccessible regions of the genome to provide base-level resolution of disease-causing repeat expansions. By combining the CRISPR/Cas9 enrichment method with Single Molecule, Real-Time (SMRT) Sequencing on the Sequel Systems you are no longer limited by hard-to-amplify targets.

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Thursday, August 27, 2020

Application Brief: Variant detection using whole genome sequencing with HiFi reads – Best Practices

With highly accurate long reads (HiFi reads) from the Sequel II System, powered by Single Molecule, Real-Time (SMRT) Sequencing technology, you can comprehensively detect variants in a human genome. HiFi reads provide high precision and recall for single nucleotide variants (SNVs), indels, structural variants (SVs), and copy number variants (CNVs), including in difficult-to-map repetitive regions.

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Thursday, May 28, 2020

Webinar: Increasing solve rates for rare and Mendelian diseases with long-read sequencing

Dr. Wenger gives attendees an update on PacBio’s long-read sequencing and variant detection capabilities on the Sequel II System and shares recommendations on how to design your own study using HiFi reads. Then, Dr. Sund from Cincinnati Children’s Hospital Medical Center describes how she has used long-read sequencing to solve rare neurological diseases involving complex structural rearrangements that were previously unsolved with standard methods.

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Tuesday, April 21, 2020

Long-read sequencing for rare human genetic diseases.

During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is

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Tuesday, April 21, 2020

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.

The sequence and assembly of human genomes using long-read sequencing technologies has revolutionized our understanding of structural variation and genome organization. We compared the accuracy, continuity, and gene annotation of genome assemblies generated from either high-fidelity (HiFi) or continuous long-read (CLR) datasets from the same complete hydatidiform mole human genome. We find that the HiFi sequence data assemble an additional 10% of duplicated regions and more accurately represent the structure of tandem repeats, as validated with orthogonal analyses. As a result, an additional 5 Mbp of pericentromeric sequences are recovered in the HiFi assembly, resulting in a 2.5-fold increase in…

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