SoftGenetics has released the latest version of its NGS analysis software.
The latest version of the software includes many advanced technologies including: Optimised algorithms that increase analysis speed up to 60%, a sophisticated new algorithm and visualisation of copy-number variation (CNV) detection from a wide variety of projects, including whole-exome and targeted sequencing panels ability to include and visualize custom, COSMIC and ESP databases.
Advanced reporting including target region coverage curve and statistics creation of project summary reports in PDF format, as well as the ability to save consensus SNP and sequence reports.
Also included in the newly released version is the ability to create a fully automated analysis pipeline from sequencing platform, analysis of raw data or BAM files and filing of analysis into the company’s Geneticist Assistant NGS Interpretative Workbench, advanced trimming options which prevent overtrimming of overlapping amplicons, a hovering feature to immediately visualise essential sequence statistics, such as depth of coverage, read balance, variant allele percent at variant positions, and a new user management tool.
John McGuigan, Biologist at SoftGenetics, said: “Like many other CNV tools, this approach is based on the assumption that the copy number affects the level ofcoverage. NextGENe’s new CNV algorithm takes it a step further and tests that assumption to provide an appropriate level of confidence.
“It then uses a Hidden Markov Model (HMM) to translate this confidence into CNV calls. The entire process is implemented in an easy-to-use interface that allows for simple fully-automated analysis or for manual tweaking of parameters to get the optimum results. The new graphical view makes it easy to visualise the raw data and the final results in an integrated way.”
