Knome

Knome, Inc. is a human genome interpretation company based in Cambridge, Massachusetts, USA. Since their 2007 launch, Knome’s sole focus has been on improving lives by applying scientific insights gained from the interpretation of human genomes. Their products and services help their clients identify and classify the variants, genes, and gene sets that are likely to govern or underlie a specific disease, tumor, or drug response. Clients include academic, pharmaceutical, and medical researchers.

Technology

Knome has developed proprietary technologies that automate many of the manual tasks involved in interpreting human whole genomes. These technologies are designed to address the informatics and workflow bottlenecks that typically hinder whole genome interpretation. The company’s core technology, kGAP, was developed in 2009 and serves as the foundation for a number of Knome’s products and services. kGAP is a cloud-enabled informatics engine that automates the process of aligning, calling, annotating, and comparing human sequence data.

Products and services

For academic, pharmaceutical, and medical researchers, Knome offers:

knomeBASE

A compute-intensive informatics service and interpretation tool kit. Clients receive applications, libraries, and scripts that enable flexible querying and rapid hypothesis testing.

knomeDISCOVERY

A complete genome interpretation solution for researchers. It includes whole genome sequencing, project-driven curation, sophisticated informatics, and in-depth interpretation by Knome's team of experienced geneticists.

knoSYS™100

An end-to-end decision support system for medical researchers interpreting human genome sequence data.

Timeline

2007

Knome was co-founded by George Church 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.

2008

Knome interpreted the genome of the third named person to be sequenced—Dan Stoicescu (who followed James Watson and Craig Venter).

2009

Knome launched kGAP, a cloud-based informatics engine.

2010

Knome successfully assisted researchers at the University of British Columbia to identify the sixth known inherited gene defect causing Parkinson’s disease.

2011

kGAP 2.0 was released

knomeBASE was introduced

2012

Knome was selected as a technology partner by John's Hopkins to analyze 1,000 genomes for asthma study

kGAP 2.5 was released

Knome announced the knoSYS™100

In the media

NOVA

In March 2012, Knome appeared on a special episode of NOVA, Cracking Your Genetic Code. In the show, Knome helped describe how the interpretation of human genomes is helping to solve medical mysteries and revolutionize personal healthcare.

Faces of America

In September 2011, Knome was featured in a four-part PBS series Faces of America with Henry Louis Gates, Jr. The series followed Harvard scholar Henry Louis Gates, Jr. as he used advanced genetics tools to explore the ancestral histories of 12 renowned Americans, uncovering unique stories of immigration that illuminate the American experience. On the program, Knome scientists illuminated the striking "mosaic" of ancestry in Professor Gates' and his father's genomes, tracing their ancestry to Africa, Europe, and beyond. By comparing the two genomes to each other, they revealed the shared genetic heritage of a father and son, including aspects of their health risks and strengths. Further, by documenting the parts of their genomes that the two men did not share, Knome's analysis offered a glimpse of the genome of Professor Gates' late mother.

Ozzy Osbourne

In 2010, Knome famously interpreted the genomes of Ozzy and Sharon Osbourne. The study uncovered notable differences in Ozzy's genes that were linked to drug and alcohol response, which shed light on how the famously hard-living rocker has survived decades of drug abuse. Several major news outlets including CNN and ABC picked up the story.

External links

• Official website