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SNPedia: a wiki supporting personal genome annotation, interpretation and analysis
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SNPedia is a wiki detailing human genetic variations and their effects, linking single nucleotide polymorphisms to health and ancestry. It supports personal genome reports through affiliated software.
Area of Science:
- Genetics
- Bioinformatics
- Computational Biology
Background:
- SNPedia is a wiki resource documenting human genetic variations.
- It focuses on functional consequences, medical, phenotypic, and genealogical associations of single nucleotide polymorphisms (SNPs).
- The resource has been freely available online since 2006 for personal use.
Purpose of the Study:
- To discuss the growth and development of the SNPedia resource.
- To highlight the utility of SNPedia in creating personal genome reports.
- To showcase the integration of SNPedia data with affiliated software.
Main Methods:
- Utilizing a wiki format for collaborative data entry and curation.
- Structuring entries for genotype and genoset associations.
- Integrating SNPedia data with external software for report generation.
Main Results:
- SNPedia has grown significantly since its inception.
- The resource effectively links genetic variations to functional consequences and phenotypes.
- Affiliated software successfully uses SNPedia data for personalized genetic reports.
Conclusions:
- SNPedia serves as a valuable, growing resource for understanding human genetic variation.
- The platform facilitates the interpretation of genetic data for personal use.
- Integration with software enhances the practical application of SNPedia for genome reporting.
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