NEWS

Appistry and NIH create genetic analysis pipeline

Appistry, a provider of HPC and analytics solutions for next-generation medicine, has partnered with the Undiagnosed Diseases Program (UDP) at the US National Institutes of Health (NIH) to implement a unique genetic-analysis pipeline for patient diagnosis.

Designed by the NIH and brought into production by Appistry, the pipeline analyses family genetics to narrow the search for genetic changes that underlie many rare and undiagnosed diseases. Rare diseases are defined in the US Orphan Drug Act as those that affect fewer than 200,000 individuals in the US. Of these individuals, just 150–170 qualify each year for the UDP.

‘Current methods compare an individual’s genome to a generic reference genome, which may differ significantly from the individual’s -- that creates an unnecessarily large number of possible genetic changes to pursue. Determining which changes are relevant is time-consuming and computationally intensive.’ said Dr William Gahl, director of the NIH UDP.

Appistry will help build a production-ready pipeline that uses an NIH UDP method of assembling and comparing genomes to identify changes that may be causing disease. In the method, a customised 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.

Twitter icon
Google icon
Del.icio.us icon
Digg icon
LinkedIn icon
Reddit icon
e-mail icon
Feature

For functionality and security for externalised research, software providers have turned to the cloud, writes Sophia Ktori

Feature

Robert Roe looks at the latest simulation techniques used in the design of industrial and commercial vehicles

Feature

Robert Roe investigates the growth in cloud technology which is being driven by scientific, engineering and HPC workflows through application specific hardware

Feature

Robert Roe learns that the NASA advanced supercomputing division (NAS) is optimising energy efficiency and water usage to maximise the facility’s potential to deliver computing services to its user community

Feature

Robert Roe investigates the use of technologies in HPC that could help shape the design of future supercomputers