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Monday, May 21, 2018

Case Study: SMRT Sequencing provides a first look at repeat expansion disorder sequence.

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.

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Monday, May 21, 2018

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…

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Monday, May 21, 2018

Case Study: Cod genome assembly – long reads offer unique insight.

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.

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Monday, May 21, 2018

Case Study: Pioneering a pan-genome reference collection

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.

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Monday, May 21, 2018

Case Study: With SMRT Sequencing for genomes, transcriptomes, and epigenomes, scientists are overcoming barriers in plant and animal 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…

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Monday, May 21, 2018

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.

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