San Diego-based Cypher Genomics Inc., a genome informatics company, and the Clinic for Special Children announced a collaboration in which Cypher's automated genomic interpretation tools will be used for the diagnosis of rare genetic diseases among a specific population.
Located in Strasburg, Penn., the Clinic for Special Children serves many Amish and Mennonite patients, a population with a relatively high incidence of genetic disease.
Erik Puffenberger, laboratory director at the Clinic for Special Children, said that because the software used will be tailored to the clinic's specific patient population, his group expects to have an increased level of confidence that it's getting the correct answers.
Ashley Van Zeeland, co-founder and CEO of Cypher Genomics, said that in such a specific setting, the level of importance increases in accounting for population-specific genetic variation in order to obtain an accurate interpretation for each patient. Cypher designed its genome interpretation software, Mantis, to be flexible and adaptable to the needs of each of Cypher's partners.