March 30, Irvine, CA. Breakthrough Genomics - a pioneer in genomic analysis and variant interpretation, just released a new version of their intelligent, cloud-based ENLITERTM software platform. The new version, released this week, adds Copy Number and Structural Variant analysis along with Tandem Repeat Expansion analysis to an already comprehensive NGS data analysis platform. These new tools allow users of ENLITERTM the ability to analyze these critical genetic variations as part of their standard NGS interpretation workflow. In essence, geneticists using ENLITERTM can now complete three distinct types of tests from one NGS sample, which will greatly increase the efficiency and diagnostics yield for clinical genetics labs.
ENLITERTM already boasts a full suite of powerful filters and tools for end-to-end NGS analysis including: a free text phenotype filter, real-time literature presentation, and one-click access to the underlying NGS data. Adding Copy Number analysis and Tandem Repeat Expansion analysis furthers the company's goal of making ENLITER a one-stop-shop for complete and up-to-date genomic analysis.