A collaboration led by UCSF and involving scientists at Mt. Sinai, Pacific Biosciences, UC Berkeley, Johns Hopkins University, the University of Pennsylvania, and Ambit Biosciences demonstrates the therapeutic validity of targeting the tyrosine kinase FLT3, bringing potential for new treatments.
At the Icahn Institute for Genomics and Multiscale Biology, scientists use automated DNA sizing together with long- read sequencing to analyze human samples, conduct routine surveillance on microbes, and more.
Scientists at the Broad Institute evaluate the PacBio RS for SNP validation and discovery, adding the instrument to their standard validation pipeline to make use of its high sensitivity and specificity.
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.
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…
Scientists at UC Davis School of Medicine have used the PacBio RS to sequence a previously “unsequenceable” region of highly repetitive DNA on the X chromosome. Their research has provided a critical leap forward in understanding the genetic complexity of repeat expansion disorders such as Fragile X Syndrome. The new method provides a path towards the first accurate means of population screening for Fragile X Syndrome, which is the most common cause of inherited intellectual disability and the most common known genetic cause of autism.
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.
Studies of the E. coli outbreak in Germany demonstrate the fundamental need for long-read sequencing and DNA base modification data. Using SMRT sequencing technology, scientists were for the first time able to reveal some of the complex mechanisms underlying gene regulation processes in the organism.
In an interview with Theral Timpson — part of Mendelspod’s series on long-read sequencing — Ulf Gyllensten, a professor in Medical Molecular Genetics at Uppsala University, spoke about using PacBio technology for HLA typing, human genome studies, transcriptomics, and more.
Scientists at the Korea Polar Research Institute used the PacBio RS for the successful de novo assembly of a GC-rich bacterial genome that couldn’t be pulled together with short-read technology.
Scientists at the University of Oslo’s Centre for Ecological and Evolutionary Synthesis (CEES) applied long PacBio reads to a genome that was proving particularly difficult to assemble. Today, sequencing problems associated with the Atlantic cod genome are a thing of the past — and researchers are using their new assembly as the foundation for a major resequencing effort that’s just getting started.
Extraordinarily long sequencing reads and recent throughput advances are allowing scientists to affordably assemble and close larger genomes, including many plants and animals — even resolving complex repeats or extreme GC regions.
PacBio long reads are changing the game in genome finishing. A new error correction pipeline developed by veterans in genome assembly allows scientists to add long-read data to their short reads and finally finish all those incomplete genomes.
At KeyGene, agricultural specialists strive to improve plant varieties through molecular breeding and other advances. They rely on SMRT Sequencing to produce top-notch assemblies from even the most difficult genomes.
From crop improvement to breeding healthier livestock to modeling human disease, scientists are using PacBio Sequencing to advance understanding of plant and animal genomes. In this article, we look at four examples of plant and animal genome references improved or made possible with SMRT Sequencing, including an early example of transcriptome sequencing of a chicken for improved annotation. These examples highlight insights gained with SMRT Sequencing that are missed with short-read data, such as complex regions or novel genes.