Next Generation Sequencing Analysis Software for Diagnostics Use

Omixon, a genomic software company, has announced the commercial release of Omixon Target, a next generation sequencing analysis software for targeted sequencing. The new Target software has been built by the company to help diagnostic labs adopt next generation sequencing to replace and complement traditional capillary Sanger sequencing.

Target was built “with diagnostics in mind” explains Tim Hague, CTO of Omixon.”It is built for precision and it is undergoing various levels of validation. This is the first NGS tool to introduce analysis quality control based on repeat analysis with mutated reference as well as with simulated short reads. This gives a realistic indication of false discovery rates for the given target.”

"We are using next-generation sequencing techniques to advance patient care at Almac and we know that accurate data and meaningful data interpretation are dependent upon employing the best analysis tools and techniques,” said Gavin Oliver, bioinformatics team leader at Almac. “Omixon fully understand this requirement and are creating highly-tuned software solutions that will empower scientists by removing much of the uncertainty from these complex analyses."

CEO of Omixon, Attila Berces, adds: " Targeted, or amplicon based sequencing is the method of choice for diagnosing several genetic disorders, screening for hereditary mutations of disease susceptibility genes or matching donors and recipients of organ transplants. These targeted amplicons are increasingly sequenced by next generation sequencing. Each diagnostic target presents different analysis challenges from a computational standpoint. The sensitive detection of long insertions and deletions is crucial for several oncogenes, while the immune system related genes show orders of higher genetic diversity. Omixon Target uses profiles with parameters set up for the particular gene target, which guaranties the highest possible precision for diverse situation."