SNPediaR

SNPediaR aggregates and organizes SNP annotations and literature-derived associations to enable interpretation of single nucleotide polymorphisms and their links to traits and disease.

Key Features:

• Literature aggregation: Aggregates published findings on associations between specific SNPs and health conditions.
• Database integration: Integrates information from multiple public databases.
• User-contributed annotations: Incorporates user-contributed annotations alongside curated records.
• Microarray SNP catalogue: Catalogues SNPs present on commercially available DNA microarray chips.
• Structured retrieval and exploration: Enables structured retrieval, exploration, and interpretation of SNP-related knowledge.
• Support for bioinformatic workflows: Supports downstream bioinformatic workflows for interpreting genotyping data.

Scientific Applications:

• Direct-to-consumer data interpretation: Interpreting direct-to-consumer genomic data by mapping reported SNPs to literature associations.
• Variant annotation and prioritization: Annotating and prioritizing variants for research or clinical investigations based on literature and database evidence.
• Microarray analysis support: Mapping SNP content of commercial DNA microarray chips to support genotyping data analysis.
• Association lookup: Enabling lookup of literature-derived SNP–trait and SNP–disease associations.

Methodology:

Aggregates literature-derived SNP associations, integrates records from multiple public databases, incorporates user-contributed annotations, and catalogs SNP content from commercial DNA microarray chips.