SNPedia

SNPedia (pronounced "snipedia") is a wiki-based bioinformatics web site that serves as a database of single nucleotide polymorphisms (SNPs). Each article on a SNP provides a short description, links to scientific articles and personal genomics 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 and similar companies.[1]

SNPedia
Content
Descriptiona wiki of human single-nucleotide polymorphisms and genotypes
Data types
captured		single-nucleotide polymorphisms, genotypes, genes, variation
OrganismsHomo sapiens
Contact
Primary citationPMID 22140107
Access
Websitewww.snpedia.com
Download URLwww.snpedia.com/index.php/Bulk
Web service URLbots.snpedia.com/api.php
Miscellaneous
LicenseCreative Commons Attribution-Noncommercial-Share Alike 3.0 United States License
Curation policywiki

SNPedia is a semantic wiki, powered by MediaWiki and the Semantic MediaWiki extension.

SNPedia was created, and is run by, geneticist Greg Lennon[2] and programmer Mike Cariaso,[3] who at the time of the site's founding were both located in Bethesda, Maryland.[4]

As of 27 June 2019, the website has 537 medical conditions[5] and 109,729 SNPs in its database.[6] The number of SNPs in SNPedia has doubled roughly once every 14 months since August 2007.[7]

On 7 September 2019, MyHeritage 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.[8]

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.[3]

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".[9] In 2009, the anonymous woman ("Lilly Mendel") was revealed to be 23andMe co-founder Linda Avey, allowing a direct comparison between her actual traits and those predicted by Promethease a year earlier.[10]

Reception

In a June 2008 article on personal genomics, a doctor from the Southern Illinois University School of Medicine said:

The availability of online tools such as SNPedia means we are now in the position where the patient often knows more about their risk implications than their doctor [...][11]

In January 2011, technology journalist Ronald Bailey posted the full result of his Promethease report online. Writing about his decision in Reason magazine, he stated:

We are fast approaching an era in which genetic information is no longer exclusive or medicalized. Instead, as screening costs plummet and our knowledge about genetics expands, virtually everyone will soon be able to have their genotypes at their fingertips. Knowing and sharing that information will enhance, not jeopardize, our sense of ourselves, change the way we consume medicine and plan for the future, and influence how we relate to each other.[12]

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.[13][14][15]

See also

References
  1. Michael Cariaso (2007-12-17). "SNPedia: A Wiki for Personal Genomics". Bio-IT World.
  2. John Carey (2008-10-23). "Is Genetic Testing Really Good for Your Health?". LEX18.
  3. Daniel MacArthur (2008-11-05). "Nature special issue on personal genomics". scienceblogs.com. Archived from the original on 2008-11-09. Retrieved 2008-11-06.
  4. "Genes R Us". Science. 319 (5860): 139. 11 January 2008. doi:10.1126/science.319.5860.139b. S2CID 1780817.
  5. "Category:Is a medical condition - SNPedia". www.snpedia.com. Retrieved 2019-06-27.
  6. "SNPedia:FAQ".
  7. SNPedia: a wiki supporting personal genome annotation, interpretation and analysis, Michael Cariaso and Greg Lennon, Nucleic Acids Research, 2011, 1–5
  8. "MyHeritage Acquires Promethease and SNPedia". www.businesswire.com. 2019-09-07. Retrieved 2019-09-09.
  9. And the Winner Is..., Matthew Crenson, The Spittoon, May 14, 2008
  10. "SNPedia:User:Lilly Mendel".
  11. Lisa Nainggolan (2008-06-23). "Letting the genome out of the bottle: Unraveling the genetics of heart disease". theheart.org by WebMD. {{cite journal}}: Cite journal requires |journal= (help)
  12. Ronald Bailey (January 2011). "I'll Show You My Genome. Will You Show Me Yours?". Reason. {{cite journal}}: Cite journal requires |journal= (help)
  13. Arthur, Rob (20 January 2016). "What's in Your Genes? Some Companies Analyzing Your DNA Use Junk Science". Slate.
  14. Kolata, Gina (2 July 2018). "The Online Gene Test Finds a Dangerous Mutation. It May Well be Wrong". The New York Times.
  15. "Genetic Wild West: 23andMe Raw Data Contains 75 Alzheimer's Mutations | ALZFORUM".
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