Hear how scientists have used PacBio sequencing to develop pangenome collections and to study population genetics of plant and animal species to power their research. Learn about the advantages of sequencing multiple individuals to gain comprehensive views of genetic variation, and understand the speed, cost, and accuracy benefits of using highly accurate long reads (HiFi reads) to sequence your species of interest.
In this short video, Aaron Wenger, a Principal Scientist at PacBio, explains what highly accurate long reads, or HiFi reads, are and how they help to detect all variant types including single nucleotide, indels, and structural variants. He goes on to recap the precisionFDA Truth Challenge V2 which used Genome in a Bottle (GIAB) benchmarks to evaluate various sequencing technologies. In the 2020 challenge, when ranked for accuracy, PacBio HiFi reads delivered the highest precision and recall in all categories.
As the foundation for scientific discoveries in genetic diversity, sequencing data must be accurate and complete. With highly accurate long-read sequencing, or HiFi sequencing, there is no longer a compromise between read length and accuracy. HiFi sequencing enables some of the highest quality de novo genome assemblies available today as well as comprehensive variant detection in human samples. PacBio HiFi libraries constructed using our standard library workflows require at least 3 µg of DNA input per 1 Gb of genome length, or ~10 µg for a human sample. For some samples it is not possible to extract this amount of…
Korean service provider DNA Link has established strong expertise with the PacBio sequencing platform in response to high global demand for the technology.
Dan Geraghty, a researcher at Fred Hutchinson Cancer Research Center and CEO of Scisco Genetics, has spent much of his career focused on the genetics of immune response. Recently he talked to Mendelspod host Theral Timpson as part of a series of podcasts on the rise of long-read sequencing.
Scientists from WashU, Macrogen, and Mount Sinai are using long-read sequencing with single-molecule, next-generation genome mapping to create gold-quality de novo assemblies of human genomes. Unbiased de novo assembled genomes also highlight the substantial amount of structural variation unique to individuals and populations, which cannot be accessed by short-read technologies that use a reference-based re-sequencing approach.
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.
Scientists are utilizing long-read PacBio sequencing to provide uniquely comprehensive views of complex plant and animal genomes. These efforts are uncovering novel biological mechanisms, enabling progress in crop development, and much more. To date, scientists have published over 1000 papers with Single Molecule, Real-Time (SMRT) Sequencing, many covering breakthroughs in the plant and animal sciences. In this case study, we look at examples in model organisms Drosophila and C. elegans and non-model organisms coffee, Oropeitum, danshen, and sugarbeet, where SMRT Sequencing has contributed to a more accurate understanding of biology. These efforts underscore the broad applicability of long-read sequencing in…
The Targeted Locus Amplification (TLA) Technology from Cergentis enables the targeted, hypothesis-neutral, amplification of any genomic locus of interest over 50 kb using just one primer pair complementary to a short locus-specific sequence. TLA is a strategy to selectively amplify complete loci on the basis of crosslinking physically proximal sequences. Unlike other targeted sequencing methods, TLA works without prior detailed locus information, as one primer pair is sufficient to amplify tens to hundreds of kilobases of DNA surrounding that locus. In a separate application of TLA, the unamplified template can be used for genome-wide phasing and assembly. TLA enables targeted…
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…
At the University of Maryland’s Genomics Resource Center, SMRT Sequencing has become an integral tool for generating complete microbial genomes, improving plant and animal genome assemblies, and exploring human genome variation.
With PacBio long-read sequencing, scientists are making exciting new discoveries about the microbes that live around and within us. From viruses to bacteria to fungi, SMRT Sequencing is shedding light on how these organisms function and evolve.
Scientists in Brazil paired PacBio long-read sequencing with Dovetail Genomics chromatin proximity ligation to generate a highly contiguous genome assembly for the cashew tree. With this resource, they are on their way to improving breeding programs to protect the plant from disease and boost yield.
At the University of California, Davis, Dario Cantu is applying long-read PacBio sequencing to the heterozygous genome of the Cabernet Sauvignon grape. Now, his team has access to whole genome data that could help guard against the effects of climate change and disease.
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.