Knome
Encyclopedia
Knome is an American personal genomics
company that sells human whole genome
and exome
analysis and sequencing services to researchers and consumers. Based in Cambridge, Massachusetts, the company was founded in 2007 (by Harvard University
geneticist George Church
and others), and was reportedly the first company to comprehensively sequence and analyze the genome of a private individual.
Knome's genome analysis and sequencing services differ from those offered by other personal genomics companies, such as 23andme
, deCODE genetics
, and Navigenics
. Those companies use SNP chips to query a person's genome sequence at many (typically 500,000 to 600,000) sites scattered throughout the genome, each of which is already known to vary in chromosomal spelling among people. Because this inexpensive approach surveys the genome at relatively coarse resolution—and only at sites already known to harbor common variants—it has been criticized as offering only weak statistical insight into genetic contributions to important diseases.
Knome's whole genome sequencing and analysis approach aims to read every site in the whole euchromatic portion of a person's genome (roughly six billion sites). While significantly more expensive than SNP chip-based genotyping
, this approach yields more data (including novel chromosomal spelling variants, which SNP chips do not detect), some of which may be relevant in efforts to understand personal health
, as well as ancestry.
Since 2009, Knome has offered exome
analysis at lower cost than for whole-genome analysis.Scientists have reported using exome analysis to refine understanding of the genetic underpinnings of some rare inborn diseases.
In 2010, Knome announced a strategic partnership with French in vitro diagnostics company BioMérieux
, to help develop high-throughput sequence analysis pipelines for the latter's business.
This same year, at the GET Conference celebrating the tenth anniversary of the Human Genome Project
, Knome announced the launch of its yearly KnomeDISCOVERY Research Awards, which aim "to fund innovative research projects that help reveal the genetic underpinnings of diseases and other important human traits." The first awards, announced in October 2010, will fund research on familial breast cancer
(at Sheba Medical Center
), facio-audio-symphalangism (FAS) and twinning
(at University College Dublin
), and progeria
(at University of Texas Southwestern Medical Center
).
Knome also worked with Harvard historian Henry Louis Gates, Jr.
as part of Gates's 2010 PBS documentary "Faces of America
." The company analyzed the whole genome sequences of Gates and his father -- the first parent and child, and the first African-Americans, to have this done. At the TEDMED Conference
in October 2010, Knome scientists joined musician Ozzy Osbourne
on stage to discuss their analysis of Osbourne’s whole genome, which shed light on how the famously hard-living rocker has survived decades of drug abuse.
Personal genomics
Personal genomics is the branch of genomics concerned with the sequencing and analysis of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism analysis chips , or partial or full genome sequencing...
company that sells human whole genome
Genome
In modern molecular biology and genetics, the genome is the entirety of an organism's hereditary information. It is encoded either in DNA or, for many types of virus, in RNA. The genome includes both the genes and the non-coding sequences of the DNA/RNA....
and exome
Exome
The exome is the part of the genome formed by exons, coding portions of genes in the genome that are expressed, that is, provide the genetic blueprint used in the synthesis of proteins and other functional gene products...
analysis and sequencing services to researchers and consumers. Based in Cambridge, Massachusetts, the company was founded in 2007 (by Harvard University
Harvard University
Harvard University is a private Ivy League university located in Cambridge, Massachusetts, United States, established in 1636 by the Massachusetts legislature. Harvard is the oldest institution of higher learning in the United States and the first corporation chartered in the country...
geneticist George Church
George Church
George Church is an American molecular geneticist. He is currently Professor of Genetics at Harvard Medical School, Professor of Health Sciences and Technology at Harvard and MIT, and a core faculty member at the Wyss Institute for Biologically Inspired Engineering at Harvard University.With...
and others), and was reportedly the first company to comprehensively sequence and analyze the genome of a private individual.
Knome's genome analysis and sequencing services differ from those offered by other personal genomics companies, such as 23andme
23andMe
23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California that is developing new methods and technologies that will enable consumers to understand their own genetic information...
, deCODE genetics
Decode Genetics
deCODE genetics, Inc. is a biopharmaceutical company based in Reykjavík, Iceland. The company was founded in 1996 to identify human genes associated with common diseases using population studies, and apply the knowledge gained to guide the development of candidate drugs...
, and Navigenics
Navigenics
Navigenics, Inc. is a privately held personal genomics company, based in Foster City, California, that uses genetic testing to help people determine their individual risk for dozens of health conditions....
. Those companies use SNP chips to query a person's genome sequence at many (typically 500,000 to 600,000) sites scattered throughout the genome, each of which is already known to vary in chromosomal spelling among people. Because this inexpensive approach surveys the genome at relatively coarse resolution—and only at sites already known to harbor common variants—it has been criticized as offering only weak statistical insight into genetic contributions to important diseases.
Knome's whole genome sequencing and analysis approach aims to read every site in the whole euchromatic portion of a person's genome (roughly six billion sites). While significantly more expensive than SNP chip-based genotyping
Genotyping
Genotyping is the process of determining differences in the genetic make-up of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence. It reveals the alleles an individual has inherited from their...
, this approach yields more data (including novel chromosomal spelling variants, which SNP chips do not detect), some of which may be relevant in efforts to understand personal health
Health
Health is the level of functional or metabolic efficiency of a living being. In humans, it is the general condition of a person's mind, body and spirit, usually meaning to be free from illness, injury or pain...
, as well as ancestry.
Since 2009, Knome has offered exome
Exome
The exome is the part of the genome formed by exons, coding portions of genes in the genome that are expressed, that is, provide the genetic blueprint used in the synthesis of proteins and other functional gene products...
analysis at lower cost than for whole-genome analysis.Scientists have reported using exome analysis to refine understanding of the genetic underpinnings of some rare inborn diseases.
In 2010, Knome announced a strategic partnership with French in vitro diagnostics company BioMérieux
BioMérieux
bioMérieux is a multinational biotechnology company founded and headquartered in France and listed on the NYSE Euronext Paris stock exchange. The company specializes in the field of in vitro diagnostics for the medical and industrial sectors...
, to help develop high-throughput sequence analysis pipelines for the latter's business.
This same year, at the GET Conference celebrating the tenth anniversary of the Human Genome Project
Genome project
Genome projects are scientific endeavours that ultimately aim to determine the complete genome sequence of an organism and to annotate protein-coding genes and other important genome-encoded features...
, Knome announced the launch of its yearly KnomeDISCOVERY Research Awards, which aim "to fund innovative research projects that help reveal the genetic underpinnings of diseases and other important human traits." The first awards, announced in October 2010, will fund research on familial breast cancer
Breast cancer
Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
(at Sheba Medical Center
Sheba Medical Center
The Chaim Sheba Medical Center at Tel Hashomer , also Tel HaShomer Hospital, is the largest hospital in Israel.-Overview:The hospital was named after Chaim Sheba, the founding director. It was established in 1948 as the country's first military hospital to treat casualties of Israel's War of...
), facio-audio-symphalangism (FAS) and twinning
Twinning
Twinning may refer to:* In biology and agriculture, producing two offspring at a time, or having a tendency to do so;* Twin towns and sister cities, towns and cities involved in town twinning...
(at University College Dublin
University College Dublin
University College Dublin ) - formally known as University College Dublin - National University of Ireland, Dublin is the Republic of Ireland's largest, and Ireland's second largest, university, with over 1,300 faculty and 17,000 students...
), and progeria
Progeria
Progeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
(at University of Texas Southwestern Medical Center
University of Texas Southwestern Medical Center
The University of Texas Southwestern Medical Center is one of the biomedical research institutions of the University of Texas System, incorporating three degree-granting institutions, four affiliated hospitals, including Parkland Memorial, the teaching hospital, and biomedical research...
).
Knome also worked with Harvard historian Henry Louis Gates, Jr.
Henry Louis Gates, Jr.
Henry Louis “Skip” Gates, Jr., is an American literary critic, educator, scholar, writer, editor, and public intellectual. He was the first African American to receive the Andrew W. Mellon Foundation Fellowship. He has received numerous honorary degrees and awards for his teaching, research, and...
as part of Gates's 2010 PBS documentary "Faces of America
Faces of America
Faces of America is a four-part Public Broadcasting Service 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. In Australia, this program aired on SBS One each Sunday at 7:30pm from 9 -30...
." The company analyzed the whole genome sequences of Gates and his father -- the first parent and child, and the first African-Americans, to have this done. At the TEDMED Conference
TED (conference)
TED is a global set of conferences owned by the private non-profit Sapling Foundation, formed to disseminate "ideas worth spreading"....
in October 2010, Knome scientists joined musician Ozzy Osbourne
Ozzy Osbourne
John Michael "Ozzy" Osbourne is an English vocalist, whose musical career has spanned over 40 years. Osbourne rose to prominence as lead singer of the pioneering English heavy metal band Black Sabbath, whose radically different, intentionally dark, harder sound helped spawn the heavy metal...
on stage to discuss their analysis of Osbourne’s whole genome, which shed light on how the famously hard-living rocker has survived decades of drug abuse.