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Knome, Inc. was a
human genome The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the n ...
interpretation company based in
Cambridge, Massachusetts Cambridge ( ) is a city in Middlesex County, Massachusetts, United States. As part of the Boston metropolitan area, the cities population of the 2020 U.S. census was 118,403, making it the fourth most populous city in the state, behind Boston, ...
. Launched in 2007, Knome focused on improving quality of life by applying scientific insights gained from the interpretation of human genomes. Their products and services helped identify and classify the variants, genes, and gene sets that are likely to govern or underlie a specific disease, tumor, or drug response. Their clients included academic, pharmaceutical and medical researchers. In 2015, it was acquired by
Tute Genomics Tute Genomics is a genomics startup that provides a cloud-based web application for rapid and accurate annotation of human genomic data. Built on the expertise of ANNOVAR, Tute assists researchers in identifying disease genes and biomarkers, and ass ...
.


Technology

Knome developed proprietary technologies that automated many of the manual tasks involved in interpreting human whole genomes. These technologies were designed to address the
informatics Informatics is the study of computational systems, especially those for data storage and retrieval. According to ACM ''Europe and'' ''Informatics Europe'', informatics is synonymous with computer science and computing as a profession, in which ...
and workflow bottlenecks that typically hinder whole genome interpretation. The company’s core technology, kGAP, was developed in 2009 and served as the foundation for a number of Knome’s products and services including the knoSYS® platform.


Products and services

For academic, pharmaceutical, and medical researchers, Knome offered: ;knoSYS® Platform: Provides labs with a scalable, production-grade informatics system for the analysis, annotation, and interpretation of human next-gen sequence data (genome, exome, targeted gene). ;knomeDISCOVERY: Research services include project-driven curation, sophisticated informatics, and in-depth interpretation by Knome's team of experienced geneticists.


Timeline

* 2007 - Knome was co-founded by
George M. Church George McDonald Church (born August 28, 1954) is an American geneticist, molecular engineer, chemist, and a serial entrepreneur who is widely regarded as the "Founding Father of Genomics", and a pioneer in personal genomics and synthetic bio ...
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 James Dewey Watson (born April 6, 1928) is an American molecular biologist, geneticist, and zoologist. In 1953, he co-authored with Francis Crick the academic paper proposing the double helix structure of the DNA molecule. Watson, Crick and ...
and
Craig Venter John Craig Venter (born October 14, 1946) is an American biotechnologist and businessman. He is known for leading one of the first draft sequences of the human genome and assembled the first team to transfect a cell with a synthetic chromosome. ...
). * 2009 - Knome launched kGAP, a
cloud In meteorology, a cloud is an aerosol consisting of a visible mass of miniature liquid droplets, frozen crystals, or other particles suspended in the atmosphere of a planetary body or similar space. Water or various other chemicals may co ...
-based
informatics Informatics is the study of computational systems, especially those for data storage and retrieval. According to ACM ''Europe and'' ''Informatics Europe'', informatics is synonymous with computer science and computing as a profession, in which ...
engine. * 2010 - Knome successfully assisted researchers at the
University of British Columbia The University of British Columbia (UBC) is a public university, public research university with campuses near Vancouver and in Kelowna, British Columbia. Established in 1908, it is British Columbia's oldest university. The university ranks a ...
to identify the sixth known inherited gene defect causing
Parkinson’s disease Parkinson's disease (PD), or simply Parkinson's, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. The symptoms usually emerge slowly, and as the disease worsens, non-motor symptoms becom ...
. * 2012 - Knome was selected as a technology partner by
Johns Hopkins School of Medicine The Johns Hopkins University School of Medicine (JHUSOM) is the medical school of Johns Hopkins University, a private research university in Baltimore, Maryland. Founded in 1893, the School of Medicine shares a campus with the Johns Hopkins Hospi ...
to analyze 1,000 genomes for asthma study. * 2015 - Knome acquired by
Tute Genomics Tute Genomics is a genomics startup that provides a cloud-based web application for rapid and accurate annotation of human genomic data. Built on the expertise of ANNOVAR, Tute assists researchers in identifying disease genes and biomarkers, and ass ...
(which later becomes a subsidiary of PierianDX in 2016).


In the media

;New York Times:In February 2013, the ''
New York Times ''The New York Times'' (''the Times'', ''NYT'', or the Gray Lady) is a daily newspaper based in New York City with a worldwide readership reported in 2020 to comprise a declining 840,000 paid print subscribers, and a growing 6 million paid d ...
'' featured the knoSYS: "a powerful computer packed with software has arrived to interpret sequences privately within the walls of a lab". ;''NOVA'':In March 2012, Knome appeared on a special episode of ''
NOVA A nova (plural novae or novas) is a transient astronomical event that causes the sudden appearance of a bright, apparently "new" star (hence the name "nova", which is Latin for "new") that slowly fades over weeks or months. Causes of the dramati ...
'', "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 the four-part
PBS The Public Broadcasting Service (PBS) is an American public broadcasting, public broadcaster and Non-commercial activity, non-commercial, Terrestrial television, free-to-air television network based in Arlington, Virginia. PBS is a publicly fu ...
series ''
Faces of America ''Faces of America'' is a four-part Public Broadcasting Service (PBS) Public television television series hosted by Professor Henry Louis Gates. The series originally aired February 10 – March 3, 2010 from 8–9 p.m. ET.Henry Louis Gates, Jr. Henry Louis "Skip" Gates Jr. (born September 16, 1950) is an American literary critic, professor, historian, and filmmaker, who serves as the Alphonse Fletcher University Professor and Director of the Hutchins Center for African and African Amer ...
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 Sharon Rachel Osbourne (née Levy, later Arden; born 9 October 1952) is a British-American television personality, music manager and author. She is married to heavy metal singer-songwriter Ozzy Osbourne and came to prominence while appearing ...
. 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.


References

{{Reflist Genomics companies Companies based in Cambridge, Massachusetts