ST. LOUIS--(BUSINESS WIRE)--Appistry, Inc., a leading provider of tools, software, and services that bring the power of genomics to next-generation medicine, has selected the winner of its inaugural Appistry Pipeline Challenge. A project team led by Dr. Benjamin Darbro, director of the Shivanand R. Patil Cytogenetics and Molecular Laboratory at the University of Iowa Hospital and Clinics, will receive a complete hardware and software system from Appistry for developing and executing a unique pipeline intended to reduce the costs and turnaround times associated with next-generation sequencing (NGS)-based genomics testing.
The winning pipeline will integrate the results of a concurrently run NGS assay (i.e., whole exome sequencing) and a SNP containing chromosomal microarray (CMA) to calculate patient specific, genome-wide, NGS-performance metrics (e.g., sensitivity, specificity, positive and negative predictive value) for various types of genetic variations detectable by the CMA platform. These performance metrics are intended to alleviate the need for confirmatory assays using conventional Sanger sequencing.
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