About us
What we do
Since launching in 2007, we have focused on helping our clients interpret whole human genomes for biological relevance. Along the way, we’ve built ground-breaking informatics technologies and human genome interpretation tools. Further, in working on well over 100 interpretation projects, we we’ve gained deep experience in the methods and challenges of interpreting vast quantities of whole genome data.
Our clients typically seek to identify the variants, genes, and gene sets that are likely to govern a specific disease or drug response. These clients include medical, pharmaceutical, and academic researchers in two dozen countries.
Services we offer: Our core service, knomeDISCOVERY, is an end-to-end solution for interpreting large numbers of human whole genomes and exomes—starting with sequencing and ending with a interpretation findings report. We also offer a basic informatics service, knomeBASE, where client receive annotated, interpretation-ready data—packaged with powerful variant filtering and comparison tools.
Systems we offer: The knoSYS™100 is the first fully integrated, locally installed, hardware and software system for the interpretation of human genome sequence data.
Our mission
Our mission is to help clients use genomics to make better decisions. We believe the genome will serve as the lens through which all medical data is viewed—helping prevent, diagnose, and treat disease.
Our view
Our view is that genomics is the foundation of precision medicine—the use of molecular and other data to accurately identify disease and enable effective, person-centered treatment. In this effort, some diseases are more challenging than others.
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Complexity vs. novelty map. Most disease maps to the complexity vs. novelty map above. As of today, only rare monogenic diseases with known variants are relatively simple to address from an algorithmic and data integration perspective. But even for monogenic diseases, most causal variants are as of yet unknown; even though they appear simple, predictive capabilities are necessary. Cancer, common disease, and novel genetic disease, due to their far greater complexity and novelty, have even greater algorithmic and data integration requirements.
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Next generation diagnostics require a next generation software platform. Current gene tests only occupy a small space within the complexity vs. novelty map above. Essentially, they are simple look-ups for known variants in known genes. But with access to whole genome data, software-based tests can be developed that simultaneously examine and compare many genes, gene networks, and genomes—as well as integrate other forms of molecular and non-molecular data. Our goal is to create the platform and tools researchers need to develop these next generation tests.
Our history
Our future
To date, whole genome sequencing and interpretation has been explored by pioneers, promoted by celebrities, and applied by researchers. Now, as a variety of ground-breaking clinical case studies have emerged, medical institutions are beginning to apply the genomic knowledge the scientific community has accumulated to individuals with cancer and rare/idiopathic disease.
As whole genome sequencing and interpretation enters its broad adoption phase, we are excited to continue to provide the genome interpretation technology and services needed to make precision medicine a reality.
