knoSYS™100 overview
Introducing the
knoSYS™100
An end-to-end human genome interpretation system
The knoSYS™100 seamlessly integrates an interpretation application (knoSOFT) and informatics engine (kGAP) with a high-performance grid computer. Designed for whole genome, exome, and targeted NGS data, the knoSYS™100 helps labs quickly go “from reads to reports.”
Advanced interpretation and reporting software
The knoSYS™100 ships with knoSOFT, an advanced application for managing sequence data through the informatics pipeline, filtering variants, running gene panels, classifying/interpreting variants, and reporting results.
knoSOFT has powerful and scalable multi-sample comparison features–capable of performing family studies, tumor/normal studies, and large case-control comparisons of hundreds of whole genomes.
Multiple simultaneous users (10) are supported, including technicians running sequence data through informatics pipeline, developers creating next-generation gene panels, geneticists researching causal variants, and production staff processing gene panels.
A platform for creating gene panels
knoSOFT enables the rapid development of validated, reusable, and shareable gene panels.
Developers can create software-based versions of existing gene panels that can run on any sequence data (genome, exome, or targeted). Panels can be designed to examine a single DNA sample, a whole family, large case-control populations, or a tumor/non-tumor pair.
Each panel can contain multiple analyses that apply a set of variant filtering rules to a set of targets (e.g. genome or gene list), a set of user-defined pathogenicity classifications for specific targets, and configurable reporting language.
As a demonstration, the knoSYS™100 includes several panels for research into epilepsy, heart disorders, and other conditions (research use only).
Powerful informatics
The knoSYS™100 informatics engine (kGAP) rapidly aligns, calls, annotates, and compares human sequence data.
Developed by a team of software engineers, geneticists, clinicians, and bioinformaticians, kGAP has been used to interpret over 2,500 of human genomes and exomes.
For annotation, kGAP draws on a harmonized knowledge base of reference information drawn from a dozen third-party sources. This reference data is regularly updated as the scientific community publishes new insights.
Breaks the bottleneck
With the capacity to align, call, and annotate more than 60 whole genomes, 250 exomes, and thousands of targeted panels per month, the knoSYS™100 breaks the informatics bottleneck.
A locally-installed solution
Unlike cloud-based solutions, the knoSYS™100 can be installed in your lab, addressing critical security, software versioning, and bandwidth concerns. Under your full control, the knoSYS™100 is ideally situated to incorporate institutional annotations, manage batch processes, and integrate with existing LIMS and EMR systems.
82 cores and 3.2 teraFLOPS of raw computing power
The hardware underlying knoSYS™100 is a sophisticated high performance grid computing system that integrates 7 separate machines, all highly optimized to run knoSOFT and kGAP—and support 10 simultaneous users. For high volume labs, even larger systems can be configured by adding additional processing nodes and storage.
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2 networks: 40-Gigabit Infiniband QDR via a Mellanox Switch and HP Procurve for network traffic
Four nodes, each with two 8-core/16 thread, 2.4Ghz, 64 bit Intel® Xeon® E5-2665 processor with 20MB cache, capable of over 250 GFLOPS (500/node)
Lustre array: two 12×4 arrays of 3.5″ drives with 6GB/sec SATA channels; 96TB total with 64TB useable (RAID 6); each OSS powered by a 6-core Intel Xeon E5-2620 64-bit processor
Learn more
To learn more or to purchase a
knoSYS™100, please fill out this form
or call us at: (617) 715-1000 x7001