Pipeline uses family genetics to identify the root causes of rare,
Rare diseases are defined in the Orphan Drug Act as those maladies that affect fewer than 200,000 individuals in the US. Of these individuals, just 150–170 qualify each year for the UDP, which often sees patients with diseases occurring in fewer than 50 people in the world.
“For an individual with an unknown disease, we need to identify which genetic change is the cause,” said
Appistry will help build a production-ready pipeline that uses an NIH UDP method of assembling and comparing genomes within a family to identify changes that may be causing disease. In the method, a customized parental reference is assembled from the biological parents’ data and used to construct the child’s genome. The resulting trio of genomes is then compared against a standard reference to determine exactly where genetic variations exist. Processing first determines sites where the child’s genome differs from the parents’; a second pass determines which changes in the child’s genome are truly unique and not just missed during the first pass.
“Our partnership with Appistry is in line with where medicine is headed,” Dr. Gahl said. “You don’t think of a company whose expertise is in IT and computation as having a direct effect on health. But this pipeline illustrates how scientific know-how and technological expertise must come together to advance patient care.”
“We are thrilled to be working with NIH UDP on this project,” said
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A leading provider of high-performance computing and analytics for managing big data, Appistry empowers medical researchers, oncologists, and clinicians to capitalize on genomics medicine. Appistry is also the authorized provider Broad tools for next-generation sequencing analysis, making the tools easier to implement and use in for-profit settings. Learn more by following us on Facebook, Twitter, and LinkedIn.
Racepoint Global for Appistry