openSNP--a crowdsourced web resource for personal genomics

PLoS One. 2014 Mar 19;9(3):e89204. doi: 10.1371/journal.pone.0089204. eCollection 2014.

Abstract

Genome-Wide Association Studies are widely used to correlate phenotypic traits with genetic variants. These studies usually compare the genetic variation between two groups to single out certain Single Nucleotide Polymorphisms (SNPs) that are linked to a phenotypic variation in one of the groups. However, it is necessary to have a large enough sample size to find statistically significant correlations. Direct-To-Consumer (DTC) genetic testing can supply additional data: DTC-companies offer the analysis of a large amount of SNPs for an individual at low cost without the need to consult a physician or geneticist. Over 100,000 people have already been genotyped through Direct-To-Consumer genetic testing companies. However, this data is not public for a variety of reasons and thus cannot be used in research. It seems reasonable to create a central open data repository for such data. Here we present the web platform openSNP, an open database which allows participants of Direct-To-Consumer genetic testing to publish their genetic data at no cost along with phenotypic information. Through this crowdsourced effort of collecting genetic and phenotypic information, openSNP has become a resource for a wide area of studies, including Genome-Wide Association Studies. openSNP is hosted at http://www.opensnp.org, and the code is released under MIT-license at http://github.com/gedankenstuecke/snpr.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Crowdsourcing*
  • Genetic Testing
  • Genome-Wide Association Study / statistics & numerical data
  • Genomics*
  • Genotype
  • Humans
  • Information Dissemination / methods
  • Internet
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Precision Medicine
  • Software*

Grant support

The study was partially funded by 5000€ from the German Wikimedia Foundation (http://www.wikimedia.de/wiki/Hauptseite) in the context of their WissensWert contest, which funds projects for the use of open licenses to create a more open culture (2011) (http://de.wikipedia.org/wiki/Wikipedia:WissensWert). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. No additional external funding was received for this study.