Knome Launches Major Upgrade to Its Genomic Interpretation Platform, Targets Clinical and Translational Laboratories

Version 3 of the knoSYS^® Platform lowers barriers to next-generation sequencing genomic testing through scalability, automation, performance, and collaboration.

CAMBRIDGE, MA – August 12, 2014 – Knome, Inc. today announced the launch of the third generation of its interpretation platform for the knoSYS^® Informatics and Genomic Interpretation System. The re-engineered platform is designed for clinical and translational medicine applications, offering a scalable, production-grade, customizable system for organizations seeking to bring the analysis of next-generation sequencing (NGS) data in-house.

“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,” said Josh Forsythe, Vice President of Sales and Marketing for Knome. “But we also recognize the need to be flexible in order to accelerate the pace at which next-generation sequencing is adopted by testing labs. Whether a lab is high volume or low volume, working with gene panels, exomes, or genomes, we offer scalable solutions in a way no other vendor does.”

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’s firewall from anywhere in the world.
• In silico panels that encapsulate an organization’s expertise, streamline the development and deployment of new tests, and aid in the rapid prioritization and interpretation of genetic variants. In silico panels can also be locked down, version-controlled, shared, and deployed within a CLIA environment to ensure accuracy and reproducibility of results.
• 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.

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.

About Knome
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.