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…
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.
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 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.
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.
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.
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.
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 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.
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.
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.
At Cold Spring Harbor Laboratory, scientists used SMRT Sequencing to decode one of the most challenging cancer genomes ever encountered. Along the way, they built a portfolio of open-access analysis tools that will help researchers everywhere make structural variation discoveries with long-read sequencing data.
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.
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.