NEW YORK (GenomeWeb News) – Appistry said today that it has been selected by the National Institutes of Health's Undiagnosed Diseases program (UDP) to create a commercial version of a genetic analysis pipeline developed at the NIH for studying genetic mutations that underlie many rare and undiagnosed diseases.
Appistry is working with the UDP to build a "production-ready pipeline" that will be based on the program's approach to 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 assembled genomes are then compared to a standard reference to determine the location of the offending variations.
The UDP's approach improves on some current methods that "compare an individual's genome to a generic reference genome, which may differ significantly from the individual's," William Gahl. NHGRI clinical director and UDP's director, explained in a statement. "That creates an unnecessarily large number of possible genetic changes to pursue. Determining which changes are relevant is time-consuming and computationally intensive."
Kevin Haar, Appistry's CEO, added that "by placing individuals in the context of family genetics, this pipeline represents an important step on the path toward precision genomics medicine."