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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 amplification-free targeted sequencing method utilizing the CRISPR/Cas9 system.
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 human trials.
Application Brief: Low-coverage, long-read whole genome sequencing for structural variation – Best Practices.
With the Sequel System, you can affordably and sensitively characterize structural variation (SV) of all types ranging in size from tens to thousands of basepairs. Low-coverage, long-read whole genome sequencing (WGS) data provides rapid discovery of common SVs for population genetics studies and resolves rare SVs unique to an individual, with a very low false-discovery rate.
With Single Molecule, Real-Time (SMRT) Sequencing, you can affordably characterize complete microbial genomes. For most microbes, closed genomes and accessory plasmids can be assembled using PacBio data from single libraries in a single run — with turn-around times as short as one day.
The ability to identify and understand the functions of the complex microbial populations living in, on, and around us requires comprehensive characterization of each community member. Long reads, high accuracy, and single-molecule resolution make Single Molecule, Real-Time (SMRT) Sequencing ideal for full-length 16S rRNA sequencing, long-read metagenomic profiling, and shotgun metagenomic assembly.
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.
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.
Scientists at the Gladstone Institutes were early adopters of SMRT Sequencing for transcriptome studies. In a recent study, they used full-length isoform sequence data to overhaul the annotation of the chicken genome, thus providing heart biology researchers with a valuable new reference tool for future studies.
Certified Service Provider Profile: AGI builds on BAC expertise and SMRT Sequencing for rice and other crop genomes.
At the University of Arizona, a leading genomics research facility benefits from decades of BAC- based sequencing expertise, original studies of crop genomes, and a unique emphasis on high molecular weight DNA.
With Single Molecule, Real-Time (SMRT) Sequencing and the Sequel System, you can easily and affordably sequence transcript isoforms of up to 10 kb in their entirety. The lso-Seq method allows users to generate full-length cDNA sequences — with no assembly required — in order to confidently characterize the full complement of transcript isoforms within targeted genes, or across an entire transcriptome.
Certified Service Provider Profile: GATC Biotech expands applications with unique attributes of SMRT Sequencing.
GATC Biotech, the first PacBio Certified Service Provider in Europe, became a leader in the sequencing field by continuously adopting new technologies, developing innovative products, and delivering quality results to its 10,000-strong customer base. Today, GATC Biotech is constantly looking for new ways to maximize the value of highly accurate, long-read sequencing.
To bring precision medicine to every patient, cancer researchers need a more comprehensive view of all the somatic variants in genes, transcripts and whole genomes that drive cancer biology. Single Molecule, Real-Time (SMRT) Sequencing delivers the read lengths, uniform coverage, and accuracy needed to access the complete size spectrum of driver mutations — from rare single nucleotide variants to complex structural variants. Full-length transcript sequencing brings clarity to tumor-specific isoform and splice variant expression, enabling the discovery of novel biomarkers for early detection, tumor stratification, treatment response, and drug resistance. With SMRT Sequencing, scientists gain new insight into the most pressing questions in cancer research.
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.
DNA sequencing has been a critical tool for the field of microbiology since the technology was first invented. Here, we look at how advances in sequencing provide microbiologists the most comprehensive and cost-effective view of their research subjects.
Case Study: Improving precision medicine studies in Asia using ethnicity-specific human reference genomes and PacBio long-read sequencing.
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.
Featured Interview: The Rise of Long Reads – Mike Snyder says long-read sequencing is critical to understanding the transcriptome.
Genomics luminary Mike Snyder, Profesor and Chair of the Genetics Department at Stanford University and Director of the Stanford Center for Genomics and Personalized Medicine, has been making strides in gene expression studies for years. His latest advance: analyzing whole human transcriptomes, which he calls personal transcriptomes, to better understand gene activity in an individual. Snyder says this approach could one day become a crucial element in clinical care. Dr. Snyder has published recent papers in Nature Biotechnology and PNAS using Single Molecule, Real- Time (SMRT) Sequencing for transcriptome analysis and demonstrated that long reads enable full coverage of RNA molecules. Recently he talked to Mendelspod host Theral Timpson as part of a series of podcasts on the rise of long-read sequencing.
The Fragment Analyzer instrument is a fast, high-resolution benchtop capillary electrophoresis (CE) platform that utilizes proprietary markers to accurately size fragments ranging from 10 bp up to 50 kb. This platform allows important DNA quality checkpoints to be completed in 1 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.
With Single Molecule, Real—Time (SMRT) Sequencing and the Sequel System, you can easily and affordably generate high quality assemblies for even the most complex genomes. Users are regularly achieving plant and animal genome assemblies with megabase—size contig N50s and consensus accuracies >99.999%, resulting in the most complete genomes available today.