What we do
Since our launch in 2007, our sole focus has been on interpreting human genomes. Due to this focus, we have accumulated significant real-world experience in managing the technical and operational challenges associated with interpreting human whole genomes.
Our research 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 academic, pharmaceutical, and biotech researchers in over two dozen countries. For them, we either provide interpretation-based informatics services and tools (knomeBASE) or full turn-key solutions that allow them to completely outsource the interpretation process, including the applicable informatics and genetics (knomeDISCOVERY). Generally speaking, our role is to help our research clients either make publishable discoveries or develop safe and effective drugs.
Clinics also come to us to purchase large-scale information systems to 1) manage whole genome sequence data and 2) help physicians interpret genomes in order to inform preventative, diagnostic, and treatment decisions. These relationships take the form of long-term partnerships that include highly customized, locally installed versions of our informatics engine, curated databases, and physician-facing applications.
Our mission
Knome’s mission is to improve lives by interpreting human genomes to yield scientific and medical insights. We believe that the genome will serve as a lens through which all medical data is viewed, helping physicians prevent, diagnose, and treat disease. Further, we believe that an understanding of human genomes will reveal the genetic basis of disease, enhance the drug development process, and anchor personal lifestyle decisions.
Our team
Knome’s team consists of individuals with extensive experience in sequencing, genetics, bioinformatics, large-scale IT systems development, and cloud computing. We are growing quickly—if you are interested in joining us, please see our jobs page.
Our technology
We have developed an array of proprietary technologies that automate many of the manual tasks involved in interpreting human whole genomes. These technologies are designed to address the informatics bottlenecks that typically hinder whole genome interpretation.
One of our core technologies is kGAP, a cloud-enabled genome informatics engine that automates the process of standardizing, distilling, annotating, and comparing sequence data. Designed to process many whole genomes at once, kGAP can complete in a day what would otherwise require months of effort and a team of specialists.
In addition to kGAP, we have developed a number of discovery-supportive interpretation tools, including knomeVARIANTS (to help researchers find causal variants and genes), knomePATHWAYS (to help researchers find causal pathways), and knomeEXPLORER (to present findings to physicians and patients).
Our history
Led by George Church, Knome was founded in 2007 based on the recognition that the rapidly falling price of whole genome sequencing would create substantial market need for whole genome interpretation technologies and services.
In 2008, Knome interpreted the genome of the third named person to be sequenced—Dan Stoicescu, who followed James Watson and Craig Venter.
In mid 2009, we launched kGAP, our cloud-based genome interpretation engine, and began interpreting whole genomes for a variety of academic, pharmaceutical, and biotech researchers around the world.
In 2010, we successfully assisted researchers at the University of British Columbia to identify the sixth known inherited gene defect causing Parkinson’s disease.
Today, we are known as The Human Genome Interpretation Company™, interpreting human genomes for researchers and physicians in over two dozen countries.
