April 11, 2018  |  Human genetics research

HudsonAlpha Chooses Sequel System for NIH-Funded Program Focused on Challenging Pediatric Cases

At the HudsonAlpha Institute for Biotechnology, scientists are building on advances in agricultural research to power a clinical pediatric research program. For this work, they’re using the Sequel System to perform whole-genome sequencing on trios of children with developmental disabilities and their parents.
HudsonAlpha researchers have been using SMRT Sequencing to resolve challenging plant genomes, deploying a Sequel System and a PacBio RS II for these complex projects. The successfulness of that program led the institute to add a second Sequel System for use in sequencing human genomes.
The organization is part of the NIH-funded Clinical Sequencing Exploratory Research Program, with faculty investigator Greg Cooper leading an effort to apply whole genome sequencing to better understand the genetic basis of intellectual and developmental disabilities in children and to provide diagnostic information to affected families. More than 500 children and their parents have been enrolled in the study.
In a statement announcing this work, Cooper said, “By applying whole genome PacBio Sequencing in this study we hope to more sensitively identify all sizes of genetic variants, thereby increasing our solve rate for previously undiagnosed children. In many cases, an accurate clinical diagnosis can improve our ability to manage the child’s condition. We also anticipate that we will make novel discoveries through this work that may benefit many families beyond those directly tested here.”
The group’s efforts to diagnose children using short-read sequencing technology have achieved a success rate of about 30 percent, but it is widely known that these platforms are unable to detect certain types of variation that contribute to disease. Structural variants such as repeat expansions and copy number variations are larger and more complex than short-read sequencers can resolve, and likely represent some of the cases that have gone undiagnosed. With PacBio long-read sequencing technology, scientists may be able to produce answers for cases that have proven intractable with other technologies.
“We believe projects like HudsonAlpha’s CSER program to help solve undiagnosed genetic disease in children are among the most important and rewarding uses for our technology,” stated Kevin Corcoran, our Senior Vice President for Market Development. “We look forward to seeing how PacBio sequencing can both improve their clinical sequencing success rate as well as support new discoveries.”

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