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Annotation of functional variation in personal genomes using RegulomeDB.
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Our overall approach is to align variants with regulatory information from a variety of sources. To do this, we first developed a comprehensive database which can help assign functional roles to variants. We then use this database to identify functional variants in the genomes of 69 normal individuals and identify regulatory variants associated with a GWAS region. We further present an online tool which rapidly annotates and classifies variants as well as a queue system for annotating entire personal genomes.