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Chunk #24 — Discussion

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Annotation of functional variation in personal genomes using RegulomeDB.
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We present here an approach using an integrated database to quickly generate prioritized hypotheses for the function of variants affecting both coding and noncoding regions in a genome by combining a large array of data sources into a single, integrated database. In particular, we include extensive information on annotated and computed regulatory elements in the human genome. Access to this novel approach via a simple and straightforward interface allows for easy query submission, and the scoring system provides for instant classification of significant variants. In addition, the SNV summary page will allow a user to quickly form a hypothesis as to the true functional consequence of a variant.