SNPedia (pronounced "snipedia") is a

wiki A wiki ( ) is an online hypertext publication collaboratively edited and managed by its own audience, using a web browser. A typical wiki contains multiple pages for the subjects or scope of the project, and could be either open to the pu ...

-based

bioinformatics Bioinformatics () is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, bioinformatics combi ...

web site that serves as a database of

single nucleotide polymorphism In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently larg ...

s (SNPs). Each article on a SNP provides a short description, links to scientific articles and

personal genomics Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphi ...

web sites, as well as microarray information about that SNP. Thus SNPedia may support the interpretation of results of personal genotyping from, e.g.,

23andMe 23andMe Holding Co. is a publicly held personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva sample t ...

and similar companies. SNPedia is a

semantic wiki A semantic wiki is a wiki that has an underlying model of the knowledge described in its pages. Regular, or syntactic, wikis have structured text and untyped hyperlinks. Semantic wikis, on the other hand, provide the ability to capture or identif ...

, powered by

MediaWiki MediaWiki is a free and open-source wiki software. It is used on Wikipedia and almost all other Wikimedia websites, including Wiktionary, Wikimedia Commons and Wikidata; these sites define a large part of the requirement set for MediaWiki ...

and the

Semantic MediaWiki Semantic MediaWiki (SMW) is an extension to MediaWiki that allows for annotating semantic data within wiki pages, thus turning a wiki that incorporates the extension into a semantic wiki. Data that has been encoded can be used in semantic search ...

extension. SNPedia was created, and is run by, geneticist Greg Lennon and programmer Mike Cariaso, who at the time of the site's founding were both located in

Bethesda, Maryland Bethesda () is an unincorporated, census-designated place in southern Montgomery County, Maryland. It is located just northwest of Washington, D.C. It takes its name from a local church, the Bethesda Meeting House (1820, rebuilt 1849), which in ...

. , the website has 537 medical conditions and 109,729 SNPs in its database. The number of SNPs in SNPedia has doubled roughly once every 14 months since August 2007. On 7 September 2019,

MyHeritage MyHeritage is an online genealogy platform with web, mobile, and software products and services, introduced by the Israeli company MyHeritage in 2003. Users of the platform can obtain their family trees, upload and browse through photos, and sear ...

announced that they acquired both SNPedia and Promethease. All non-European raw genetic data files previously uploaded to Promethease, and not deleted by users by 1 Nov 2019, are to be copied to MyHeritage and the users will receive a free MyHeritage account with paid level of services, including Cousin Matching and Ethnicities.

Promethease

An associated computer program called Promethease, also developed by the SNPedia team, allows users to compare personal genetics results against the SNPedia database, generating a report with information about a person's attributes, such as propensity to diseases, based on the presence of specific SNPs within their genome. In May 2008 Cariaso, using Promethease, won an online contest sponsored by 23andMe to determine as much information as possible about an anonymous woman based only on her genome. Cariaso won in all three categories of "accuracy, creativity and cleverness". In 2009, the anonymous woman ("Lilly Mendel") was revealed to be 23andMe co-founder

Linda Avey Linda Avey (née Bahnson) is an American biologist and entrepreneur. She is known for co-founding 23andMe, a consumer genetic data company. Early life Avey was born in 1960, in South Dakota, United States. She attended Augustana University, ...

, allowing a direct comparison between her actual traits and those predicted by Promethease a year earlier.

Reception

In a June 2008 article on personal genomics, a doctor from the

Southern Illinois University School of Medicine Southern Illinois University School of Medicine is a medical school located in Springfield, the capital of the U.S. state of Illinois. It is part of the Southern Illinois University system, which includes a campus in Edwardsville as well as the ...

said: In January 2011, technology journalist

Ronald Bailey Ronald Bailey (born November 23, 1953) is an American Libertarianism in the United States, libertarian Science journalism, science writer. He has written or edited several books on economics, ecology, and biotechnology. Personal life Bailey wa ...

posted the full result of his Promethease report online. Writing about his decision in ''

Reason Reason is the capacity of consciously applying logic by drawing conclusions from new or existing information, with the aim of seeking the truth. It is closely associated with such characteristically human activities as philosophy, science, ...

'' magazine, he stated: Members of the medical community have criticised Promethease for technical complexity and a poorly defined "magnitude" scale that causes misconceptions, confusion and panic among its users.

References

External links

*
Michael Cariaso - Next-Gen Sequencing, Wikis and SNPedia

Webcast A webcast is a media presentation distributed over the Internet using streaming media technology to distribute a single content source to many simultaneous listeners/viewers. A webcast may either be distributed live or on demand. Essentially, web ...

from Bio-ITWorld.com. * {{URL, http://snpedia.com/index.php/Promethease, Promethease on SNPedia Biological databases Genomics companies MediaWiki websites Semantic wikis Mutation Single-nucleotide polymorphisms

Promethease

Reception

See also

References

External links