Today Appistry announced the winner of its inaugural Pipeline Challenge. The winner is 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. Dr. Darbro won the contest with a proposal for developing a pipeline intended to alleviate one of the most costly burdens associated with clinical NGS testing – conducting variant confirmatory assays using conventional sequencing.
More specifically, Dr. Darbro’s 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 specific, genome-wide, NGS performance metrics for various types of genetic variations detectable by the CMA platform. These metrics would alleviate the need for confirmatory testing using Sanger sequencing.
Dr. Darbro 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 NGS-based genomics testing.