knoSYS informatics and genomic interpretation system
The knoSYS® system provides labs with a scalable, production-grade informatics infastructure for the analysis, annotation, and interpretation of human next-gen sequence data.

It is a fully integrated system for alignment, variant calling, annotation, multi-sample comparison, analysis, variant classification, report content drafting, and storage of human genome sequence data.

The knoSYS is designed for operational support of research and clinical laboratories using next-generation sequencing technologies and is capable of storing and sharing variants, panels, exomes, and genomes.

NGS pipeline including align, call, annotate, filter, classify, and report
Powerful informatics engine
The knoSYS informatics engine, which encompasses dozens of complex procedures, has been used to process several thousand whole genomes and exomes. For annotation, the knoSYS integrates reference information from a large number of third-party sources, including HGMD, 1000 Genomes, Ensembl, COSMIC, and the 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.
In silico panels encapsulate expertise for efficient variant prioritization
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. Each panel may contain multiple sub-panels that apply variant selection rules to particular targets based on application-specific modes of analysis, such as patterns of Mendelian inheritance, tumor-normal comparisons, or large population contrasts.
Easy-to-use interface simplifies entire testing process

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.

All members of a multidisciplinary lab team can work productively together using the knoSYS. From technologists and bioinformaticians to genetic counselors and lab directors, everyone can access the parts of the NGS analysis process that matter to them.

Interactive variant explorer accelerates 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 significant information, greatly reducing the time needed to classify, interpret, and draft reporting language.
Dr. Massimo Delledonne
“The knoSYS is an extraordinarily powerful system. It combines an open platform for alignment and variant calling with integrated, user-friendly software for the analysis and interpretation of gene panels, exomes, and whole genomes. The knoSYS consistently improves the speed and quality of our projects, large, and small.”
– Massimo Delledonne, PhD, University of Verona
Scalable options to fit every lab
Pay-per-sample and license options are available.

Software only – The knoSYS software can be installed on an organization’s existing, high-performance hardware.

k25 – For labs that focus on targeted panels or moderate number of whole genomes, the k25 hardware is a low-cost entry solution for genomic interpretation.

k100 – The k100 is a high-performance computing cluster with a database server and storage units. And it’s scalable, making it the optimal turnkey informatics solution for high-volume labs.

Hosted – Either hardware model can also be hosted at a secure facility and accessed remotely.

Learn more about the knoSYS hardware options »