An end-to-end system
The knoSYS™ platform is a fully-integrated, locally installed system for alignment, variant calling, annotation, multi-sample comparison, interpretation, variant classification, report content drafting, and storage of human genome sequence data. It is designed for operational support of research and clinical laboratories using next generation sequencing technologies. The knoSYS™ platform is also designed for storing and sharing expertise at the level of variants, panels, exomes and genomes.
knoSYS™ 100 model
knoSYS™ 100 model
Powerful informatics engine
The knoSYS™ platform includes an advanced application that integrates a powerful informatics engine with the filtering, interpretation, and reporting capabilities that genetic testing labs require. The knoSYS™ informatics engine rapidly aligns, calls, annotates, and compares NGS data.
Integrating over 50 software components, our informatics engine has been used to process over 3,000 human genomes and exomes. Multiple align and call modules can be installed.

For annotation, the engine integrates reference information from a large number of third-party sources, including HGMD, 1000 Genomes, Ensembl, and Exome Sequencing Project. Reference data are updated on a regular schedule, ensuring that your lab has access to cutting-edge insights from the genomics community

Easy-to-use interface simplifies informatics and quality control
Bioinformatics is typically a command line driven, highly manual, and ‘finicky’ process. The knoSYS™ platform provides an easy-to-use graphical user interface that both automates and simplifies the process, reducing the need for dedicated bioinformatics effort to manage the process.

Quality control is also simplified, with results of sequencing and bioinformatics presented in a simple, all-in-one window from which processes can be restarted.

In silico panels encapsulate expertise for consistent, efficient variant filtering
On the knoSYS™ platform, you can create in silico panels that encode your lab’s expertise for efficient identification of variants of interest. Your panels can be specific to a project or saved to a version-controlled library for validation, updating, reuse and sharing. Panels can be tailored to corresponding lab assays or be built to mimic focused testing.
Each panel may contain multiple sub-panels that apply variant selection rules to particular targets (e.g., genome, gene list, or known variants) based on application-specific modes of analysis, such as patterns of Mendelian inheritance, tumor-normal comparisons, or large population contrasts.
Variant Explorer accelerates variant interpretation and classification
The knoSYS™ Variant Explorer provides an interactive workspace for reviewing comprehensive external and institutional knowledge about each variant. Data are laid out for rapid review of the most informative information, greatly reducing the time needed to classify, interpret, and draft reporting language.
Data include predicted effects, phenotype associations, classifications, links to papers, frequencies, sequence quality metrics, etc. Your institution’s curated variant classifications and reporting language are also provided, allowing you to leverage your accumulated knowledge.
Hardware options to fit every lab
The knoSYS™ platform is now supported by two primary hardware models. Whether your lab is doing small or large scale genomics or targeted panels, a system can be configured for your needs.

knoSYS™ 25 – For use at labs that focus on targeted panels and moderate numbers of whole exomes and genomes.

knoSYS™ 100 – For use at larger labs that have a high-volume requirement for processing exomes and genomes. The knoSYS™ 100 has the added advantage of having an expandable storage array from 60TB usable to 180TB usable. In addition, the knoSYS™ hardware architecture is scalable to address the very high-volume labs that need even more.

knoSYS™ software, data, and hardware specifications: