Clinical OMICS

MAY-JUN 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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6 Clinical OMICs May/June 2019 www.clinicalomics.com News DNAnexus, UPMC, Sutter Health Launch Clinico-Genomic MS Precision Medicine Study DNAnexus, UPMC, and Sutter Health network announced the launch of a large-scale clinico-genomic multiple sclerosis (MS) research study aimed at improving personalized treatments for people with the group of 30+ inherited neuromuscular diseases. Under the collaboration, researchers at the Sutter Health Center for Precision Medi- cine will input de-identified clinico-genomic datasets from more than 3,000 patients to the DNAnexus Apollo Platform, with the goal of enabling rapid analysis, visualization, and collaboration within a secure environment. The Genome Center at UPMC, a CLIA/ CAP-certified industrial-scale sequencing center in Pittsburgh, will generate clinical-grade genomic data from samples contributed by the program's participants, DNAnexus and Sutter said. "Datasets generated in a real-world setting will propel Sutter Health to the forefront of MS research worldwide," said Gregory Tranah, Ph.D., director of the Center for Precision Medicine at Sutter Health. "Collaborating with DNAnexus allows access to cutting-edge bioinformatics tools to better under- stand our clinically meaningful 'big data.' This is an important step to advance precision med- icine efforts across Sutter and, ultimately, to improve treatments for people with MS in our community and the millions of people affected with the disease worldwide." n Faster, Cheaper RNA Sequencing Technology Developed Researchers from the lab of Bart De- plancke, Ph.D., at the École Polytechnique Federale de Lausanne (EPFL) Institute of Bioengineering say they have developed a new method called Bulk RNA Barcod- ing and sequencing (BRB-seq) which is 25 times less expensive than conventional commercial RNA sequencing technology. Among its many advantages, BRB-seq is quick and preserves strand-specificity, the scientists noted. As such, BRB-seq offers a low-cost approach for performing tran- scriptomics on hundreds of RNA samples, which can increase the number of biologi- cal replicates (and therefore experimental accuracy) in a single run, explained De- plancke, whose team's work appears in Genome Biology. The scientists report that BRB-seq can detect the same number of genes as commercial technology at the same sequencing depth and that the tech- nique produces reliable data even with low-quality RNA samples. It can also gen- erate genome-wide transcriptomic data at a cost that is comparable to profiling four genes using RT-qPCR, which is currently a standard, but low-throughput method for measuring gene expression. n Sophia Genetics Gains CE-IVD Marking for its Solid Tumor MDx Sophia Genetics has obtained the CE-IVD marking for its Solid Tumor Solution (STS), a molecular diagnostic application de- signed to precisely detect and character- ize all types of genomic alterations in 42 clinically relevant genes associated with a range of solid tumors, including lung, col- orectal, skin, and brain cancers. According to the company, the STS panel can detect single nucleotide vari- ants (SNVs), insertions, deletions (Indels) and gene amplification events. It can also identify microsatellite instability (MSI) status in 6 unique loci associated with colorectal cancer. STS bundles a capture-based target en- richment kit and runs on the company's SOPHiA AI clinical genomics platform, designed to assist clinicians in diagnosing and treating patients—with full access to the company's SOPHiA DDM or "data-driv- en medicine" clinical research platform for experts performing genomic testing, which enables users to explore, interpret, and report genomic alterations. n FotografiaBasica / E+ / Getty Images Christoph Burgstedt / iStock / Getty Images areeya_ann / iStock / Getty Images

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