“Genomic testing is a complex, resource intensive process that relies heavily on a multi-disciplinary team to analyze and interpret data,” stated Wolfgang Daum, President and CEO of Knome. “This creates significant barriers, especially for diagnostic start-ups and smaller labs. The knoSYS was designed to shield the user from much of that complexity and to facilitate collaboration among all the stakeholders in a genomic testing environment, from bioinformaticists and technicians upstream, to medical geneticists, genetic counselors and clinicians downstream. This will significantly streamline the entire R&D, validation, and deployment process of an organization.”
In addition to the new software release, Knome announced that it has expanded its business model to include pay-as-you-go pricing to reduce costs for lower throughput labs or those just beginning to pilot NGS testing.
Version 3 of the knoSYS platform is also engineered to work independently of Knome’s hardware, thereby eliminating the need to purchase new equipment for an organization already heavily invested in its existing IT infrastructure.
“We are highly confident in the value our hardware delivers from a performance, security, and cost perspective,”
Major platform enhancements include:
· A new, professionally designed interface that aligns to various lab roles. Whether the user processes raw sequence data, designs tests, interprets genetic variants, or produces reports, the new design empowers all members of a lab, including collaborators, to work effectively with NGS data. The knoSYS is also now accessible through a web browser and can be operated within a secure and controlled environment behind an organization’
· In silico panels that encapsulate an organization’
· Improved database server functionality to capture and track patient information along with institutional classification of genetic variants.
· A more open architecture enabling customers themselves, or with the help of Knome support, to install any third-party software for aligning sequence reads and calling genetic variants.
· New reference data sources focused on clinically actionable information such as HGMD, ClinVar, HPO, and COSMIC. Custom reference databases can also be incorporated upon request.
· Performance improvements to dramatically speed up align, call, annotation, and in silico panel filtering processes.
· Integration with IGV for improved quality control through visual inspection of aligned reads.
· Reading of gVCF files for full consideration of reference-matching sites.
“We are very pleased with the advances in the knoSYS platform and what it will do for clinical adoption of next-generation sequencing,”
About the knoSYS® System
The knoSYS 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 delivered on two standard hardware models: the k25 for labs that focus on targeted panels or work directly with VCF files of exomes and genomes, and the k100, a high performance computing cluster for the end-to-end workflow of high volume labs.
Knome, Inc. is a leading provider of human genome interpretation systems and services. Knome provides tools and solutions that help researchers, drug developers, and clinicians determine the genetic basis of human disease and drug response. Designed to accelerate and industrialize the process of interpreting whole genomes, Knome’s big data technologies are helping to smooth the healthcare industry’s transition to molecular-based, precision medicine. For more information about Knome, visit www.knome.com.