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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20 Clinical OMICs March/April 2018 F or more than 20 years, Ricky Ramon endured multiple surgeries to remove mysterious benign tumors from various parts of his body, including inside his heart. Though his doctors suspected a genetic disease called Carney syn- drome, genetic testing using standard short-read DNA sequencing failed to find any changes to the relevant genes. This outcome is all too common: Sequencing only identifies the cause of genetic disorders about 30 percent of the time. When Ramon was 21, his doctors recommended a heart transplant, but his eligibil- ity for the procedure depended on whether a new heart would remain tumor-free—a possibility they could not rule out. In a last-ditch effort to uncover the genetic cause of Ramon's tumors (and determine his eligibility for a new heart), a research team led by Stanford University professor of medicine Euan Ashley, M.D., Ph.D., decided to give DNA sequencing another chance. This time they turned to long- read sequencing (LRS) using PacBio's Sequel system. That decision paid off: The team found a large deletion overlapping a gene implicated in Carney Syndrome. Having found the genetic cause, Ramon is likely eligible for a new heart. Published in 2017 in Genetics in Medicine, this research also offers hope that new genomic technologies will yield genetic information that has long been unavailable. "There is a lot of genetic variation that has been missed, and there are now technologies that can interrogate that," said Jonas Korlach, Ph.D., chief scientific officer at PacBio. In addition to long-read sequencing, those technolo- gies include (among others) linked-reads developed Katharine Miller Contributing Editor Beyond Short Reads Up-and-Coming Genomics Technologies Reveal Previously Unseen Structural Variants 10X Genomics' Chromium Controller automates the partitioning and molecular barcoding of DNA samples to prepare them for Illumina sequencing and thereby obtain long-range information from short reads.

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