SNPedia

SNPedia catalogs and summarizes the functional consequences of human single nucleotide polymorphisms (SNPs) by extracting and curating associations from peer-reviewed scientific studies.

Key Features:

• Peer-Reviewed Curation: Curates and links information from peer-reviewed publications to individual SNP entries.
• Genotype and Genoset Associations: Associates specific genotypes and combinatorial genotypes (genosets) with reported phenotypic or medical outcomes.
• Medical and Phenotypic Annotations: Annotates SNPs with reported effects on medical conditions, physical traits, and genealogical implications.
• Integration with Analysis Software: Provides data used by affiliated software to generate personal genome reports.

Scientific Applications:

• Personalized Medicine: Links SNPs to medical conditions to inform personalized medicine and genetic risk assessment.
• Genetic Research: Serves as a centralized resource for exploring gene–trait and gene–disease associations reported in the literature.
• Genealogical Studies: Provides SNP-based annotations relevant to ancestry and family-history analyses.

Methodology:

Curates and formats entries from peer-reviewed publications, organizing SNP annotations to associate specific genotypes and genosets with reported phenotypic or medical consequences.