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Literature

Application Note: Multiplex target enrichment using barcoded multi-kilobase fragments and probe-based capture technologies

2016

Summary +

Target enrichment capture methods allow scientists to rapidly interrogate important genomic regions of interest for variant discovery, including SNPs, gene isoforms, and structural variation. Custom targeted sequencing panels are important for characterizing heterogeneous, complex diseases and uncovering the genetic basis of inherited traits with more uniform coverage when compared to PCR-based strategies. With the increasing availability of high-quality reference genomes, customized gene panels are readily designed with high specificity to capture genomic regions of interest, thus enabling scientists to expand their research scope from a single individual to larger cohort studies or population-wide investigations. Coupled with PacBio long-read sequencing, these technologies can capture 5 kb fragments of genomic DNA (gDNA), which are useful for interrogating intronic, exonic, and regulatory regions, characterizing complex structural variations, distinguishing between gene duplications and pseudogenes, and interpreting variant haplotyes. In addition, SMRT Sequencing offers the lowest GC-bias and can sequence through repetitive regions.

Literature

Case Study: First comprehensive view of maize genome reveals regulatory and structural mechanisms

2016

Summary +

Scientists at the USDA and Cold Spring Harbor Laboratory know that better breeding of maize to feed a growing population will depend on an accurate reference assembly. They tackled the previously intractable crop with a combination of PacBio Sequencing and BioNano Genomics® genome maps, leading to the first-ever high-quality reference assembly.

Literature

Epigenetics Application Brochure: Characterize the epigenetic landscape of your genome

2016

Summary +

Single Molecule, Real-Time (SMRT) Sequencing directly detects DNA modifications by measuring variation in the polymerase kinetics of DNA base incorporation during sequencing. With high throughput, long reads, and the sensitivity to detect epigenetic modification without amplification or chemical conversions, the PacBio Systems offer scalable solutions for assessing DNA modifications in bacterial and eukaryotic genomes.

Literature

Industrial Biotechnology Brochure: Fuel biotech discovery with confident characterization of microbes and their communities

2016

Summary +

Industrial microbiologists rely on comprehensive genomic information to identify and develop complex biological products. Single Molecule, Real-Time (SMRT) Sequencing delivers a more complete view of individual organisms and microbial communities, fueling research for modern pharmaceutical discovery, environmental remediation, chemical commodity production, and agriculture products.

Literature

Case Study: Improving precision medicine studies in Asia using ethnicity-specific human reference genomes and PacBio long-read sequencing

2017

Summary +

Several new high-quality human genome assemblies produce ethnicity-specific reference sequences and show how scientists can use this genetic information to improve precision medicine studies in Asian sub- populations. These projects demonstrate how long- read SMRT Sequencing provides robust detection of polymorphic structural variants in clinically relevant gene coding regions and phases variants into haplotypes.

Literature

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

2017

Summary +

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 human trials.

Literature

Application Brochure: No-Amp targeted sequencing

2018

Summary +

Due to technology limitations, repeat-expansion disorders have gone without the needed base-level resolution of the disease causative long repetitive elements. Enrichment of these hard-to-amplify genomic regions is now possible with our no-amplification (No-Amp) targeted sequencing method utilizing the CRISPR/Cas9 system.

Literature

Case Study: Pioneering a pan-genome reference collection

2018

Summary +

At DuPont Pioneer, DNA sequencing is paramount for R&D to reveal the genetic basis for traits of interest in commercial crops such as maize, soybean, sorghum, sunflower, alfalfa, canola, wheat, rice, and others. They cannot afford to wait the years it has historically taken for high-quality reference genomes to be produced. Nor can they rely on a single reference to represent the genetic diversity in its germplasm.

Literature

Whitepaper: Structural variation in the human genome

2017

Summary +

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.

Literature

Core Lab Brochure: The most trusted long-read technology

2018

Summary +

SMRT Sequencing is Smart Business. Scientists rely on long-read sequencing to generate high-quality reference genomes, more accurate gene and transcript models, and an integrated view of the epigenome for their organisms of interest. Single Molecule, Real-Time (SMRT) Sequencing from PacBio is the most trusted long-read sequencing solution available today, delivering comprehensive genomic information for microbes, complex plant and animal genomes, and human biomedical research.

Literature

Technical Note: Preparing libraries for PacBio whole genome sequencing for de novo assembly – Quality control and size selection

2018

Summary +

Single Molecule, Real-Time (SMRT) Sequencing uses the natural process of DNA replication to sequence long fragments of native DNA. As such, starting with high-quality, high molecular weight genomic DNA will result in longer libraries and better performance across difficult to sequence regions of the genome. This technical note is intended to give recommendations, tips and tricks for assessing and preserving the quality and size of your SMRTbell library, and size selection procedures for libraries intended to be used with whole genome sequencing for de novo assembly.

Literature

Technical Note: Preparing DNA for PacBio whole genome sequencing for de novo assembly – Quality control and shearing

2018

Summary +

Single Molecule, Real-Time (SMRT) Sequencing uses the natural process of DNA replication to sequence long fragments of native DNA. As such, starting with high-quality, high molecular weight (HMW) genomic DNA (gDNA) will result in longer libraries and better performance across difficult to sequence regions of the genome. This technical note is intended to give recommendations, tips and tricks for assessing and preserving the quality and size of your gDNA sample, shearing methods, and size selection procedures for samples intended to be used with whole genome sequencing for de novo assembly.

Literature

Technical Note: Preparing samples for PacBio whole genome sequencing for de novo assembly – Collection and storage

2018

Summary +

Single Molecule, Real-Time (SMRT) Sequencing uses the natural process of DNA replication to sequence long fragments of native DNA. As such, starting with high-quality, high molecular weight (HMW) genomic DNA (gDNA) will result in better sequencing performance across difficult to sequence regions of the genome. To obtain the highest quality, long DNA it is important to start with sample types compatible with HMW DNA extraction methods. This technical note is intended to give general guidance on sample collection, preparation, and storage across a range of commonly encountered sample types used for SMRT Sequencing whole genome projects. It is important to note that all samples and projects are unique and may not be comprehensively addressed in this document.

Literature

De Novo Assembly Brochure: Assembly options for your SMRT Sequencing data

2018

Summary +

It is now easier and more affordable than ever to do a genome project with PacBio Single Molecule, Real-Time (SMRT) Sequencing—the gold standard for generating contiguous, highly accurate reference genomes. Assembly is no longer a challenge with the wealth of bioinformatics tools developed and optimized for SMRT Sequencing data, enabling you to generate high-quality genome assemblies on any budget.

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