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Dynamic Shifts in Precision Medicine Since the launch of Illumina's flagship HiSeq X se- quencing platform, the cost for a research-grade whole genome has held steady at around $1,000. The only potential competition on the hori- zon, BGI's Revolocity (based on technology from Complete Genomics), has since been shelved. However, there have been a number of exciting developments that promise to open up the use of NGS in other areas. One area in which tremendous progress is be- ing made is that of long reads, which are revealing areas of complexity in the genome and transcrip- tome that defy short-read sequencing. In the anal- ysis of genomes, the primary problem is dealing with repeated sequences of DNA. Repeats longer than the underlying read length can be very dif- ficult or even impossible to uniquely map to the reference genome. Similar challenges occur in transcriptome analy- sis. "Most genes contain multiple alternative exons that are located farther apart in the mRNA than the read length," says Brenton Gravely, Ph.D., the John and Donna Krenicki Professor of see page 20 NanoString's nCounter barcoding technology enables the direct, digital counting of target molecules in cells and tissues. For single-molecule detection, fluorescent barcodes are attached to DNA, RNA, and proteins via labeled antibodies. With this 3D Biology approach, all three analytes may be detected at once. Multiplexing allows tens to hundreds of targets to be measured in a single assay. One area in which tremendous progress is being made in next-gen sequencing is that of long reads, which are revealing areas of complexity in the genome and transcriptome that defy short-read sequencing. Cosinart/Getty Images "Within seconds, the software produces a list of safe and effective medication options for an individual patient," exclaims Dr. Dawes. Abigail T. Berman, M.D., assistant professor at the University of Pennsylvania and associate clinical director at the Penn Center for Precision Medicine, reflects on precision medicine from the patients' point of view: "If something has Lisa Heiden, Ph.D. Pharmacogenomic precision medicine can now be incorporated into routine clinical practice according to Martin Dawes, M.D., professor and head of family medicine, University of British Columbia (UBC). TreatGX software, developed at UBC, integrates a patient's current physical state, medications, and pharmacogenomics. Shawn C. Baker, Ph.D. The next-generation sequencing (NGS) market has been and continues to be dominated by Illumina, causing many researchers to complain that the lack of competition is causing the rate of NGS advancement to slow, at least in terms of cost for short- read sequencing. see page 38 35 Anniversary! th Leading the Way in Life Science Technologies October 1, 2016 GENengnews.com Advances in Next-Generation Sequencing 6 12 26 34 42 Evolution of Human Intelligence PCR from the Lab to the Point of Care Optimizing Protein Expression Average Batch Failure Rate Worsens Swiping and Tapping for Better Health