Clinical OMICS

MAR-APR 2018

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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Page 26 of 51 March/April 2018 Clinical OMICs 25 muscular dystrophy. All of these would have been difficult to find using SRS or LRS. Vilain is continuing to use Bion- ano technology to further the work of the Undiagnosed Diseases Network study, an NIH-funded effort to solve the most challenging medical mysteries. In addition, a group at Penn State is using Bionano's approach to simplify testing for SVs in leukemia patients. And Greenwood Genetics in South Carolina is using the approach to increase diagnostic yield throughout the state's hospital system. Finding the Clinical Sweet Spot It may be some time yet before the PacBio, 10X, and Bion- ano technologies reach the clinic. "The fact that we have just begun to uncover this hidden aspect of variation in human genomes means it will take a while to create the equivalent databases," Korlach notes. For example, ClinVar and SNPDb do not exist yet for SVs and are only now being established, he says. To partially address that problem, PacBio is developing a joint SV caller to directly compare parental and child sequences when there is a high chance of a de novo SV in the child. "This will accelerate the rate of solved cases without waiting for the arrival of sophisticated databases," Korlach says. And 10X is developing de novo genome assembly tech- niques that will be less reliant on such databases as well. Ultimately, clinicians are agnostic to the technology that gets them the genetic information they need. "They want an accurate, reproducible answer," Aro said. "It's incumbent on the research and bioinformatics communities to provide technology that works—tools with the highest sensitivity and specificity for the task at hand." Single-Cell Isolation Made Easy TM - Aspirate as little as 2 ul suspension - Dispense sub-nanoliter drops - Almost 100% single-count accuracy - No Poisson distribution - High viability - No waste = perfect for rare cells Email: Or visit: The PacBio Sequel System shown here is built on Single Molecule, Real-Time (SMRT) sequencing technology, also known as long-read sequencing (LRS).

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