NEW YORK (GenomeWeb) – Cypher Genomics and the Clinic for Special Children (CSC) today announced a collaboration to diagnose rare genetic diseases.
Strasburg, Pennsylvania-based CSC will use Cypher’s automated genomic interpretation tools to diagnose diseases in its unique patient population, which includes the Amish and Mennonites, populations that have a relatively high incidence of genetic disease.
The partners will perform a study that is both retrospective and prospective. Cypher will validate its Mantis software platform using patients with a confirmed diagnosis of disease. This will establish a baseline sensitivity and specificity profile and allow the software to account for allelic frequencies specific to the particular patient population.
San Diego-based Cypher’s software can interpret all categories of variants commonly observed in human genomes, including single nucleotide polymorphisms, indels, and copy number variations, the firm said in a statement. The partners will then use the tuned platform to diagnose new cases in the prospective arm of the study.
“A validated automated solution to interpret our genomic data will enable us to return results to more patients than we otherwise could with our current methods, which are both time- and labor-intensive,” CSC Laboratory Director Erik Puffenberger said in a statement. “Because the software will be tailored to our patient population, we also expect to have an increased level of confidence that we are getting to the correct answers.”
Financial terms of the deal were not disclosed.
Last month, Cypher collaborated with the University of Pennsylvania to study the genetic causes of progressive supranuclear palsy.